Lysosomal storage disorders in the newborn

Pediatrics

Volumn 123, Issue 4, 2009, Pages 1191-1207

  Staretz Chacham, Orna ^a   Lang, Tess C ^a   Lamarca, Mary E ^a   Krasnewich, Donna ^a   Sidransky, Ellen ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

Enzyme deficiency; Hydrops; Lysosomal storage disorders; Neonatal

Indexed keywords

FACE DYSMORPHIA; HEPATOSPLENOMEGALY; INBORN ERROR OF METABOLISM; LYSOSOME STORAGE DISEASE; PHYSICIAN; PRIORITY JOURNAL; REVIEW; ALGORITHM; CARDIOVASCULAR DISEASE; DIFFERENTIAL DIAGNOSIS; EYE DISEASE; FETUS HYDROPS; GAUCHER DISEASE; HUMAN; NEWBORN; PATHOPHYSIOLOGY; RECURRENT ABORTION; RESPIRATORY FAILURE; SEIZURE; SPLENOMEGALY;

ABORTION, HABITUAL; ALGORITHMS; CARDIOVASCULAR DISEASES; DIAGNOSIS, DIFFERENTIAL; EYE DISEASES; GAUCHER DISEASE; HUMANS; HYDROPS FETALIS; INFANT, NEWBORN; LYSOSOMAL STORAGE DISEASES; RESPIRATORY INSUFFICIENCY; SEIZURES; SPLENOMEGALY;

EID: 65349115304     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2008-0635     Document Type: Review

References (170)

1. Stone DL, Sidransky E. Hydrops fetalis: lysosomal storage disorders in extremis. Adv Pediatr. 1999;46:409-440
2. Fletcher JM. Screening for lysosomal storage disorders: a clinical perspective. J Inherit Metab Dis. 2006;29(2-3):405-408 (Pubitemid 43880642)
3. Beaudet AL, Scriver CR, Sly WS, Valle D. Genetics, biochemistry and molecular basis of variant human phenotypes. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York, NY: McGraw-Hill; 1995:53-118
4. Wraith JE. Lysosomal disorders. Semin Neonatol. 2002;7(1):75-83 (Pubitemid 34742221)
5. Futerman AH, van Meer G. The cell biology of lysosomal storage disorders. Nat Rev Mol Cell Biol. 2004;5(7):554-565 (Pubitemid 38868584)
6. Vellodi A. Lysosomal storage disorders. Br J Haematol. 2005;128(4):413-431 (Pubitemid 40283160)
7. Beutler E, Grabowski GA. Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York, NY: McGraw-Hill; 1995:2641-2670
8. Sakuraba H, Suzuki Y, Akagi M, Sakai M, Amano N. Beta-galactosidase- neuraminidase deficiency (galactosialidosis): clinical, pathological, and enzymatic studies in a postmortem case. Ann Neurol. 1983;13(5):497-503
9. Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr. 2006;148(5):671-676 (Pubitemid 43776899)
10. Howell RR, Byrne B, Darras BT, Kishnani P, Nicolino M, van der Ploeg A. Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome. Genet Med. 2006;8(5):289-296 (Pubitemid 44297315)
11. Verity MA. Infantile Pompe's disease, lipid storage, and partial carnitine deficiency. Muscle Nerve. 1991;14(5):435-440
12. Sarfati R, Hubert A, Dugue-Marechaud M, Biran-Mucignat V, Pierre F, Bonneau D. Prenatal diagnosis of Gaucher's disease type 2: ultrasonographic, biochemical and histological aspects. Prenat Diagn. 2000;20(4):340-343 (Pubitemid 30204169)
13. Mignot C, Gelot A, Bessieres B, et al. Perinatal-lethal Gaucher disease. Am J Med Genet A. 2003;120A(3):338-344 (Pubitemid 37063768)
14. Eblan MJ, Goker-Alpan O, Sidransky E. Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum. Fetal Pediatr Pathol. 2005;24(4-5):205-222 (Pubitemid 43879267)
15. Ida H, Rennert OM, Watabe K, Eto Y, Maekawa K. Pathological and biochemical studies of fetal Krabbe disease. Brain Dev. 1994;16(6):480-484
16. Sahai I, Baris H, Kimonis V, Levy HL. Krabbe disease: severe neonatal presentation with a family history of multiple sclerosis. J Child Neurol. 2005;20(10):826-828 (Pubitemid 43124473)
17. Korn-Lubetzki I, Dor-Wollman T, Soffer D, Raas-Rothschild A, Hurvitz H, Nevo Y. Early peripheral nervous system manifestations of infantile Krabbe disease. Pediatr Neurol. 2003;28(2):115-118 (Pubitemid 36434156)
18. Clarke JT, Ozere RL, Krause VW. Early infantile variant of Krabbe globoid cell leucodystrophy with lung involvement. Arch Dis Child. 1981;56(8):640-642 (Pubitemid 11018888)
19. Güngör N, Coşkun T, Akçören Z, Caǧlar M. I-cell disease: a case report and review of the literature. Turk J Pediatr. 1994;36(2):145-152
20. Denis R, Wayenberg JL, Vermeulen M, et al. Hyperphosphatasemia in early diagnosed infantile GM1 gangliosidosis presenting as transient hydrops fetalis. Acta Clin Belg. 1996;51(5):320-327 (Pubitemid 26390077)
21. Morrone A, Bardelli T, Donati MA, et al. Beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. Hum Mutat. 2000;15(4):354-366 (Pubitemid 30194726)
22. Simpson MA, Cross H, Proukakis C, et al. Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. Nat Genet. 2004;36(11):1225-1229 (Pubitemid 41288973)
23. Elleder M, Jerabkova M, Befekadu A, et al. Prosaposin deficiency: a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient. Neuropediatrics. 2005;36(3):171-180 (Pubitemid 41117113)
24. Burch M, Fensom AH, Jackson M, Pitts-Tucker T, Congdon PJ. Multiple sulphatase deficiency presenting at birth. Clin Genet. 1986;30(5):409-415 (Pubitemid 17200190)
25. Santos RP, Hoo JJ. Difficulty in recognizing multiple sulfatase deficiency in an infant. Pediatrics. 2006;117(3):955-958 (Pubitemid 46063244)
26. Inui K, Yanagihara K, Otani K, et al. A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules. J Pediatr. 2001;138(1):137-139 (Pubitemid 32097159)
27. Tylki-Szymanska A, Lugowska A, Czartoryska B. Neuraminidase deficiency presenting as a nephrosialidosis: the first case detected in Poland. Acta Paediatr Jpn. 1996;38(5):529-532 (Pubitemid 26330764)
28. Hoyme HE, Jones KL, Higginbottom MC, O'Brien JS. Presentation of mucopolysaccharidosis VII (beta-glucuronidase deficiency) in infancy. J Med Genet. 1981;18(3):237-239 (Pubitemid 11126507)
29. Arda IS, Gençoǧlu A, Coşkun M, Ozbek N, Demirhan B, Hiçsönmez A. A very unusual presentation of Niemann-Pick disease type B in an infant: similar findings to congenital lobar emphysema. Eur J Pediatr Surg. 2005;15(4):283-286 (Pubitemid 41354571)
30. Morisot C, Millat G, Coeslier A, et al. Fatal neonatal respiratory distress in Niemann-Pick C2 and prenatal diagnosis with mutations in gene HE1/NPC2 [in French]. Arch Pediatr. 2005;12(4):434-437 (Pubitemid 40460355)
31. Kishnani PS, Steiner RD, Bali D, et al. Pompe disease diagnosis and management guideline. Genet Med. 2006;8(5):267-288 (Pubitemid 44297314)
32. Akcam M. Infantile Pompe's disease presenting with pulmonary infections during the newborn period. Saudi Med J. 2004;25(12):2022-2023 (Pubitemid 40253694)
33. Metzl JD, Elias ER, Berul CI. An interesting case of infant sudden death: severe hypertrophic cardiomyopathy in Pompe's disease. Pacing Clin Electrophysiol. 1999;22(5):821-822 (Pubitemid 29245001)
34. Devi AR, Gopikrishna M, Ratheesh R, Savithri G, Swarnalata G, Bashyam M. Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family. J Hum Genet. 2006;51(9):811-814 (Pubitemid 44386826)
35. Unger S, Paul DA, Nino MC, et al. Mucolipidosis II presenting as severe neonatal hyperparathyroidism. Eur J Pediatr. 2005;164(4):236-243 (Pubitemid 40543794)
36. Patriquin HB, Kaplan P, Kind HP, Giedion A. Neonatal mucolipidosis II (I-cell disease): clinical and radiologic features in three cases. AJR Am J Roentgenol. 1977;129(1):37-43 (Pubitemid 8165851)
37. Cipolloni C, Boldrini A, Donti E, Maiorana A, Coppa GV. Neonatal mucolipidosis II (I-cell disease): clinical, radiological and biochemical studies in a case. Helv Paediatr Acta. 1980;35(1):85-95 (Pubitemid 10110438)
38. Babcock DS, Bove KE, Hug G, Dignan PS, Soukup S, Warren NS. Fetal mucolipidosis II (I-cell disease): radiologic and pathologic correlation. Pediatr Radiol. 1986;16(1):32-39 (Pubitemid 16170918)
39. Pazzaglia UE, Beluffi G, Danesino C, Frediani PV, Pagani G, Zatti G. Neonatal mucolipidosis 2: the spontaneous evolution of early bone lesions and the effect of vitamin D treatment - report of two cases. Pediatr Radiol. 1989;20(1-2):80-84 (Pubitemid 20001629)
40. Beck M, Barone R, Hoffmann R, et al. Inter- and intrafamilial variability in mucolipidosis II (I-cell disease). Clin Genet. 1995;47(4):191-199
41. Herman TE, McAlister WH. Neonatal mucolipidosis II (I-cell disease) with dysharmonic epiphyseal ossification and butterfly vertebral body. J Perinatol. 1996;16(5):400-402 (Pubitemid 126432848)
42. Saul RA, Proud V, Taylor HA, Leroy JG, Spranger J. Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia. Am J Med Genet A. 2005;135(3):328-332 (Pubitemid 40756665)
43. Sathasivam A, Garibaldi L, Murphy R, Ibrahim J. Transient neonatal hyperparathyroidism: a presenting feature of mucolipidosis type II. J Pediatr Endocrinol Metab. 2006;19(6):859-862 (Pubitemid 44083543)
44. Oohira T, Nagata N, Akaboshi I, Matsuda I, Naito S. The infantile form of sialidosis type II associated with congenital adrenal hyperplasia: possible linkage between HLA and the neuraminidase deficiency gene. Hum Genet. 1985;70(4):341-343 (Pubitemid 16241989)
45. Kyllerman M, Mansson JE, Westphal O, Conradi N, Nellstrom H. Infantile galactosialidosis presenting with congenital adrenal hyperplasia and renal hypertension. Pediatr Neurol. 1993;9(4):318-322 (Pubitemid 23262748)
46. Noori S, Acherman R, Siassi B, et al. A rare presentation of Pompe disease with massive hypertrophic cardiomyopathy at birth. J Perinat Med. 2002;30(6):517-521 (Pubitemid 36014767)
47. Bulkley BH, Hutchins GM. Pompe's disease presenting as hypertrophic myocardiopathy with Wolff-Parkinson-White syndrome. Am Heart J. 1978;96(2):246-252 (Pubitemid 8390643)
48. Guertl B, Noehammer C, Hoefler G. Metabolic cardiomyopathies. Int J Exp Pathol. 2000;81(6):349-372 (Pubitemid 32291178)
49. Chabás A, Duque J, Gort L. A new infantile case of alpha-N-acetylgalactosaminidase deficiency: cardiomyopathy as a presenting symptom. J Inherit Metab Dis. 2007;30(1):108
50. Lee JE, Falk RE, Ng WG, Donnell GN. Beta-glucuronidase deficiency: a heterogeneous mucopolysaccharidosis. Am J Dis Child. 1985;139(1):57-59
51. den Hollander NS, Kleijer WJ, Schoonderwaldt EM, Los FJ, Wladimiroff JW, Niermeijer MF. In-utero diagnosis of mucopolysaccharidosis type VII in a fetus with an enlarged nuchal translucency. Ultrasound Obstet Gynecol. 2000;16(1):87-90 (Pubitemid 33108695)
52. Arai Y, Edwards V, Takashima S, Becker LE. Vascular pathology in galactosialidosis. Ultrastruct Pathol. 1999;23(6):369-374 (Pubitemid 30029872)
53. Patel MS, Callahan JW, Zhang S, et al. Early-infantile galactosialidosis: prenatal presentation and postnatal follow-up. Am J Med Genet. 1999;85(1):38-47 (Pubitemid 29256803)
54. Gravel RA, Lowden JA, Callahan JW, Wolfe LS, Ng Yin Kin NM. Infantile sialidosis: a phenocopy of type 1 GM1 gangliosidosis distinguished by genetic complementation and urinary oligosaccharides. Am J Hum Genet. 1979;31(6):669-679 (Pubitemid 10131815)
55. Finn LS, Zhang M, Chen SH, Scott CR. Severe type II Gaucher disease with ichthyosis, arthrogryposis and neuronal apoptosis: molecular and pathological analyses. Am J Med Genet. 2000;91(3):222-226 (Pubitemid 30165428)
56. Beaudet AL, DiFerrante NM, Ferry GD, Nichols BL Jr, Mullins CE. Variation in the phenotypic expression of beta-glucuronidase deficiency. J Pediatr. 1975;86(3):388-394
57. Gillett PM, Schreiber RA, Jevon GP, et al. Mucopolysaccharidosis type VII (Sly syndrome) presenting as neonatal cholestasis with hepatosplenomegaly. J Pediatr Gastroenterol Nutr. 2001;33(2):216-220 (Pubitemid 32802826)
58. Nordborg C, Kyllerman M, Conradi N, Mansson JE. Early-infantile galactosialidosis with multiple brain infarctions: morphological, neuropathological and neurochemical findings. Acta Neuropathol (Berl). 1997;93(1):24-33 (Pubitemid 127471344)
59. Pueschel SM, O'Shea PA, Alroy J, et al. Infantile sialic acid storage disease associated with renal disease. Pediatr Neurol. 1988;4(4):207-212 (Pubitemid 18217696)
60. Harzer K, Paton BC, Poulos A, et al. Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined sphingolipidoses. Eur J Pediatr. 1989;149(1):31-39 (Pubitemid 19256486)
61. Hulková H, Cervenkova M, Ledvinova J, et al. A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation. Hum Mol Genet. 2001;10(9):927-940 (Pubitemid 32401409)
62. Semeraro LA, Riely CA, Kolodny EH, Dickerson GR, Gryboski JD. Niemann-Pick variant lipidosis presenting as "neonatal hepatitis." J Pediatr Gastroenterol Nutr. 1986;5(3):492-500
63. Kelly DA, Portmann B, Mowat AP, Sherlock S, Lake BD. Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease. J Pediatr. 1993;123(2):242-247 (Pubitemid 23221104)
64. Maconochie IK, Chong S, Mieli-Vergani G, Lake BD, Mowat AP. Fetal ascites: an unusual presentation of Niemann-Pick disease type C. Arch Dis Child. 1989;64(10 spec No.): 1391-1393 (Pubitemid 19252714)
65. Uno Y, Taniguchi A, Tanaka E. Histochemical studies in Wolman's disease: report of an autopsy case accompanied with a large amount of milky ascites. Acta Pathol Jpn. 1973;23(4):779-790
66. Hoeg JM, Demosky SJ Jr, Pescovitz OH, Brewer HB Jr. Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency. Am J Hum Genet. 1984;36(6):1190-1203 (Pubitemid 15156226)
67. Perlmutter-Cremer N, Libert J, Vamos E, Spehl M, Liebaers I. Unusual early manifestation of multiple sulfatase deficiency [in English, French]. Ann Radiol (Paris). 1981;24(1):43-48
68. Burk RD, Valle D, Thomas GH, et al. Early manifestations of multiple sulfatase deficiency. J Pediatr. 1984;104(4):574-578 (Pubitemid 14125684)
69. Lalwani SG, Kher A, Shridhar N, Bharucha BA, Naik GG. Mucolipidoses-II: a report of three cases. Indian J Pediatr. 1995;62(5):611-614
70. Hochman JA, Treem WR, Dougherty F, Bentley RC. Mucolipidosis II (I-cell disease) presenting as neonatal cholestasis. J Inherit Metab Dis. 2001;24(5):603-604
71. Barbier C, Devisme L, Dobbelaere D, Noizet O, Nelken B, Gottrand F. Neonatal cholestasis and infantile Gaucher disease: a case report. Acta Paediatr. 2002;91(12):1399-1401 (Pubitemid 36174069)
72. Roth P, Sklower Brooks S, Potaznik D, Cooma R, Sahdev S. Neonatal Gaucher disease presenting as persistent thrombocytopenia. J Perinatol. 2005;25(5):356-358 (Pubitemid 40645609)
73. Adachi M, Wallace BJ, Schneck L, Volk BW. Fine structure of central nervous system in early infantile Gaucher's disease. Arch Pathol. 1967;83(6):513-526
74. Sidransky E, Tayebi N, Stubblefield BK, et al. The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease. J Med Genet. 1996;33(2):132-136 (Pubitemid 26055744)
75. Tasso MJ, Martinez-Gutierrez A, Carrascosa C, Vazquez S, Tebar R. GM1-gangliosidosis presenting as nonimmune hydrops fetalis: a case report. J Perinat Med. 1996;24(5):445-449 (Pubitemid 26358595)
76. Yuksel A, Kayserili H, Gungor F. Short femurs detected at 25 and 31 weeks of gestation diagnosed as Leroy I-cell disease in the postnatal period: a report of two cases. Fetal Diagn Ther. 2007;22(3):198-202 (Pubitemid 46598676)
77. Aynaci FM, Cakir E, Aynaci O. A case of I-cell disease (mucolipidosis II) presenting with craniosynostosis. Childs Nerv Syst. 2002;18(12):707-711 (Pubitemid 36041457)
78. Sidransky E, Fartasch M, Lee RE, et al. Epidermal abnormalities may distinguish type 2 from type 1 and type 3 of Gaucher disease. Pediatr Res. 1996;39(1):134-141 (Pubitemid 26003533)
79. Lui K, Commens C, Choong R, Jaworski R. Collodion babies with Gaucher's disease. Arch Dis Child. 1988;63(7):854-856 (Pubitemid 18167685)
80. Fujimoto A, Tayebi N, Sidransky E. Congenital ichthyosis preceding neurologic symptoms in two sibs with type 2 Gaucher disease. Am J Med Genet. 1995;59(3):356-358
81. Mau U, Kendziorra H, Kaiser P, Enders H. Restrictive dermopathy: report and review. Am J Med Genet. 1997;71(2):179-185 (Pubitemid 27284037)
82. Holleran WM, Ziegler SG, Goker-Alpan O, et al. Skin abnormalities as an early predictor of neurologic outcome in Gaucher disease. Clin Genet. 2006;69(4):355-357
83. Rybojad M, Moraillon I, Ogier de Baulny H, Prigent F, Morel P. Extensive Mongolian spot related to Hurler disease [in French]. Ann Dermatol Venereol. 1999;126(1):35-37
84. Sergi C, Beedgen B, Kopitz J, et al. Refractory congenital ascites as a manifestation of neonatal sialidosis: clinical, biochemical and morphological studies in a newborn Syrian male infant. Am J Perinatol. 1999;16(3):133-141 (Pubitemid 29269969)
85. Libert J, Van Hoof F, Farriaux JP, Toussaint D. Ocular findings in I-cell disease (mucolipidosis type II). Am J Ophthalmol. 1977;83(5):617-628 (Pubitemid 8136085)
86. Tekinalp G, Aliefendioǧlu D, Yüce A, Caǧlar M, Beck M. A case with early infantile form of galactosialidosis with unusual haematological findings. J Inherit Metab Dis. 1999;22(5):668-669 (Pubitemid 29278281)
87. Hutchison AA, Drew JH, Yu VY, Williams ML, Fortune DW, Beischer NA. Nonimmunologic hydrops fetalis: a review of 61 cases. Obstet Gynecol. 1982;59(3):347-352 (Pubitemid 12176955)
88. Girgensohn H, Kellner H, Sudhof H. Congenital Gaucher's disease in erythroblastosis and vascular sclerosis [in German]. Klin Wochenschr. 1954;32(3-4):57-64
89. Nicolaides KH, Warenski JC, Rodeck CH. The relationship of fetal plasma protein concentration and hemoglobin level to the development of hydrops in rhesus isoimmunization. Am J Obstet Gynecol. 1985;152(3):341-344 (Pubitemid 15049764)
90. Piraud M, Froissart R, Mandon G, Bernard A, Maire I. Amniotic fluid for screening of lysosomal storage diseases presenting in utero (mainly as non-immune hydrops fetalis). Clin Chim Acta. 1996;248(2):143-155 (Pubitemid 26146774)
91. Burin MG, Scholz AP, Gus R, et al. Investigation of lysosomal storage diseases in nonimmune hydrops fetalis. Prenat Diagn. 2004;24(8):653-657 (Pubitemid 39108575)
92. Kooper AJ, Janssens PM, de Groot AN, et al. Lysosomal storage diseases in non-immune hydrops fetalis pregnancies. Clin Chim Acta. 2006;371(1-2):176-182 (Pubitemid 44162912)
93. Bouvier R, Maire I. Diagnosis of lysosomal storage diseases with fetal presentation [in French]. Ann Pathol. 1997;17(4):277-280 (Pubitemid 27433420)
94. Ginsburg SJ, Groll M. Hydrops fetalis due to infantile Gaucher's disease. J Pediatr. 1973;82(6):1046-1048
95. Sun CC, Panny S, Combs J, Gutberlett R. Hydrops fetalis associated with Gaucher disease. Pathol Res Pract. 1984;179(1):101-104 (Pubitemid 14014816)
96. Sidransky E, Sherer DM, Ginns EI. Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene. Pediatr Res. 1992;32(4):494-498
97. Sherer DM, Metlay LA, Sinkin RA, Mongeon C, Lee RE, Woods JR Jr. Congenital ichthyosis with restrictive dermopathy and Gaucher disease: a new syndrome with associated prenatal diagnostic and pathology findings. Obstet Gynecol. 1993;81(5 pt 2):842-844 (Pubitemid 23139007)
98. Strasberg PM, Skomorowski MA, Warren IB, Hilson WL, Callahan JW, Clarke JT. Homozygous presence of the crossover (fusion gene) mutation identified in a type II Gaucher disease fetus: is this analogous to the Gaucher knock-out mouse model? Biochem Med Metab Biol. 1994;53(1):16-21 (Pubitemid 24339015)
99. Tayebi N, Cushner SR, Kleijer W, et al. Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene. Am J Med Genet. 1997;73(1):41-47 (Pubitemid 27467525)
100. Beck M, Bender SW, Reiter HL, et al. Neuraminidase deficiency presenting as non-immune hydrops fetalis. Eur J Pediatr. 1984;143(2):135-139 (Pubitemid 15222534)
101. Gillan JE, Lowden JA, Gaskin K, Cutz E. Congenital ascites as a presenting sign of lysosomal storage disease. J Pediatr. 1984;104(2):225-231 (Pubitemid 14188929)
102. Guibaud P, Cottin X, Maire I, et al. Fetal ascites as a manifestation of infantile sialidosis. Significance of a study of oligosaccharides in amniotic fluid [in French]. J Genet Hum. 1985;33(3-4):317-324 (Pubitemid 16255886)
103. Schmidt M, Fahnenstich H, Haverkamp F, Platz H, Hansmann M, Bartmann P. Sialidosis and galactosialidosis as the cause of non-immunologic hydrops fetalis [in German]. Z Geburtshilfe Neonatol. 1997;201(5):177-180 (Pubitemid 27471247)
104. Ovali F, Samanci N, Guray A, et al. Congenital sialidosis. Turk J Pediatr. 1998;40(3):447-451 (Pubitemid 128564109)
105. Buchholz T, Molitor G, Lukong KE, et al. Clinical presentation of congenital sialidosis in a patient with a neuraminidase gene frameshift mutation. Eur J Pediatr. 2001;160(1):26-30 (Pubitemid 32060064)
106. Sergi C, Penzel R, Uhl J, et al. Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene. Hum Genet. 2001;109(4):421-428 (Pubitemid 33064521)
107. Pattison S, Pankarican M, Rupar CA, Graham FL, Igdoura SA. Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression. Hum Mutat. 2004;23(1):32-39 (Pubitemid 38056099)
108. Loren DJ, Campos Y, d'Azzo A, et al. Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase. J Perinatol. 2005;25(7):491-494 (Pubitemid 40975601)
109. Landau D, Meisner I, Zeigler M, Bargal R, Shinwell ES. Hydrops fetalis in four siblings caused by galactosialidosis. Isr J Med Sci. 1995;31(5):321-322
110. Haverkamp F, Jacobs D, Cantz M, Hansmann M, Fahnenstich H, Zerres K. Nonimmune hydrops fetalis with galactosialidosis: consequences for family planning. Fetal Diagn Ther. 1996;11(2):114-119 (Pubitemid 26056055)
111. Claeys M, Van der Hoeven M, de Die-Smulders C, et al. Early-infantile type of galactosialidosis as a cause of heart failure and neonatal ascites. J Inherit Metab Dis. 1999;22(5):666-667 (Pubitemid 29278280)
112. Lefebvre G, Wehbe G, Heron D, Vautjoer Brouzes D, Choukroun JB, Darbois Y. Recurrent nonimmune hydrops fetalis: a rare presentation of sialic acid storage disease. Genet Couns. 1999;10(3):277-284 (Pubitemid 29473769)
113. Lemyre E, Russo P, Melancon SB, Gagne R, Potier M, Lambert M. Clinical spectrum of infantile free sialic acid storage disease. Am J Med Genet. 1999;82(5):385-391 (Pubitemid 29096147)
114. Landau D, Cohen D, Shalev H, et al. A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred. Mol Genet Metab. 2004;82(2):167-172 (Pubitemid 38692555)
115. Applegarth DA, Toone JR, Wilson RD, Yong SL, Baldwin VJ. Morquio disease presenting as hydrops fetalis and enzyme analysis of chorionic villus tissue in a subsequent pregnancy. Pediatr Pathol. 1987;7(5-6):593-599 (Pubitemid 18088925)
116. Beck M, Braun S, Coerdt W, Merz E, Young E, Sewell AC. Fetal presentation of Morquio disease type A. Prenat Diagn. 1992;12(12):1019-1029 (Pubitemid 23030449)
117. Colmant C, Picone O, Froissart R, Labrune P, Senat MV. Second-trimester diagnosis of mucopolysaccharidosis type IV a presenting as hydrops fetalis. Prenat Diagn. 2006;26(8):750-752 (Pubitemid 44252256)
118. Nelson A, Peterson L, Frampton B, Sly WS. Mucopolysaccharidosis VII (beta-glucuronidase deficiency) presenting as non-immune hydrops fetalis. J Pediatr. 1982;101(4):574-576
119. Islam MR, Shah GN, Sly WS. PCR-based restriction fragment length polymorphism and haplotype of the most common mutation L176F in the beta-glucuronidase gene. Genet Test. 2007;11(1):72-74 (Pubitemid 46557360)
120. Vervoort R, Islam MR, Sly WS, et al. Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII. Am J Hum Genet. 1996;58(3):457-471 (Pubitemid 26062476)
121. Abu-Dalu KI, Tamary H, Livni N, Rivkind AI, Yatziv S. GM1 gangliosidosis presenting as neonatal ascites. J Pediatr. 1982;100(6):940-943
122. Vajro P, Strisciuglio P, Fontanella A, De Vincenzo A. Neonatal ascites disclosing GM1 gangliosidosis [in French]. Arch Fr Pediatr. 1990;47(7):544 (Pubitemid 20361985)
123. Sinelli MT, Motta M, Cattarelli D, Cardone ML, Chirico G. Fetal hydrops in GM(1) gangliosidosis: a case report. Acta Paediatr. 2005;94(12):1847-1849 (Pubitemid 43155605)
124. Meizner I, Levy A, Carmi R, Robinsin C. Niemann-Pick disease associated with nonimmune hydrops fetalis. Am J Obstet Gynecol. 1990;163(1 pt 1):128-129 (Pubitemid 20253075)
125. Ben-Haroush A, Yogev Y, Levit O, Hod M, Kaplan B. Isolated fetal ascites caused by Wolman disease. Ultrasound Obstet Gynecol. 2003;21(3):297-298 (Pubitemid 36390718)
126. Kattner E, Schafer A, Harzer K. Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease. Eur J Pediatr. 1997;156(4):292-295 (Pubitemid 27142150)
127. Roberts DJ, Ampola MG, Lage JM. Diagnosis of unsuspected fetal metabolic storage disease by routine placental examination. Pediatr Pathol. 1991;11(4):647-656
128. Nelson J, Kenny B, O'Hara D, Harper A, Broadhead D. Foamy changes of placental cells in probable beta glucuronidase deficiency associated with hydrops fetalis. J Clin Pathol. 1993;46(4):370-371 (Pubitemid 23138756)
129. Molyneux AJ, Blair E, Coleman N, Daish P. Mucopolysaccharidosis type VII associated with hydrops fetalis: histopathological and ultrastructural features with genetic implications. J Clin Pathol. 1997;50(3):252-254 (Pubitemid 27122807)
130. Hale LP, van de Ven CJ, Wenger DA, Bradford WD, Kahler SG. Infantile sialic acid storage disease: a rare cause of cytoplasmic vacuolation in pediatric patients. Pediatr Pathol Lab Med. 1995;15(3):443-453
131. Froissart R, Cheillan D, Bouvier R, et al. Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero. J Med Genet. 2005;42(11):829-836 (Pubitemid 41598190)
132. Soma H, Yamada K, Osawa H, Hata T, Oguro T, Kudo M. Identification of Gaucher cells in the chorionic villi associated with recurrent hydrops fetalis. Placenta. 2000;21(4):412-416 (Pubitemid 30364877)
133. Groener J, Maaswinkel-Mooy P, Smit V, et al. New mutations in two Dutch patients with early infantile galactosialidosis. Mol Genet Metab. 2003;78(3):222-228 (Pubitemid 36332024)
134. Vedder AC, Strijland A, vd Bergh Weerman MA, Florquin S, Aerts JM, Hollak CE. Manifestations of Fabry disease in placental tissue. J Inherit Metab Dis. 2006;29(1):106-111
135. Venkat-Raman N, Sebire NJ, Murphy KW. Recurrent fetal hydrops due to mucopolysaccharidoses type VII. Fetal Diagn Ther. 2006;21(3):250-254
136. Manning DJ, Price WI, Pearse RG. Fetal ascites: an unusual presentation of Niemann-Pick disease type C. Arch Dis Child. 1990;65(3):335-336 (Pubitemid 20108924)
137. Meikle PJ, Hopwood JJ. Lysosomal storage disorders: emerging therapeutic options require early diagnosis. Eur J Pediatr. 2003;162(suppl 1):S34-S37 (Pubitemid 38064742)
138. Meikle PJ, Fietz MJ, Hopwood JJ. Diagnosis of lysosomal storage disorders: current techniques and future directions. Expert Rev Mol Diagn. 2004;4(5):677-691 (Pubitemid 39220841)
139. Harzer K, Cantz M, Sewell AC, et al. Normomorphic sialidosis in two female adults with severe neurologic disease and without sialyl oligosacchariduria. Hum Genet. 1986;74(3):209-214 (Pubitemid 17056536)
140. Peelen GO, de Jong JG, Wevers RA. HPLC analysis of oligosaccharides in urine from oligosaccharidosis patients. Clin Chem. 1994;40(6):914-921 (Pubitemid 24166310)
141. Harzer K, Rolfs A, Bauer P, et al. Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K. Neuropediatrics. 2003;34(6):301-306 (Pubitemid 38057035)
142. Brooks DA, McCourt PA, Gibson GJ, Ashton LJ, Shutter M, Hopwood JJ. Analysis of N-acetylgalactosamine-4-sulfatase protein and kinetics in mucopolysaccharidosis type VI patients. Am J Hum Genet. 1991;48(4):710-719 (Pubitemid 21891615)
143. Umapathysivam K, Hopwood JJ, Meikle PJ. Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease. Clin Chem. 2001;47(8):1378-1383 (Pubitemid 32678814)
144. Carpenter KH, Wiley V. Application of tandem mass spectrometry to biochemical genetics and newborn screening. Clin Chim Acta. 2002;322(1-2):1-10 (Pubitemid 34718056)
145. Chace DH, Kalas TA, Naylor EW. The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism. Annu Rev Genomics Hum Genet. 2002;3:17-45 (Pubitemid 35217429)
146. Beck M. New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy. Hum Genet. 2007;121(1):1-22 (Pubitemid 46421136)
147. Malatack JJ, Consolini DM, Bayever E. The status of hematopoietic stem cell transplantation in lysosomal storage disease. Pediatr Neurol. 2003;29(5):391-403 (Pubitemid 37543674)
148. Krivit W. Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases. Springer Semin Immunopathol. 2004;26(1-2):119-132 (Pubitemid 40021961)
149. Boelens JJ. Trends in haematopoietic cell transplantation for inborn errors of metabolism. J Inherit Metab Dis. 2006;29(2-3):413-420 (Pubitemid 43880644)
150. Orchard PJ, Blazar BR, Wagner J, Charnas L, Krivit W, Tolar J. Hematopoietic cell therapy for metabolic disease. J Pediatr. 2007;151(4):340-346 (Pubitemid 47417999)
151. Peters C, Steward CG. Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines. Bone Marrow Transplant. 2003;31(4):229-239 (Pubitemid 36336225)
152. Staba SL, Escolar ML, Poe M, et al. Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N Engl J Med. 2004;350(19):1960-1969 (Pubitemid 38580199)
153. Escolar ML, Poe MD, Provenzale JM, et al. Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease. N Engl J Med. 2005;352(20):2069-2081 (Pubitemid 40664308)
154. Koç ON, Day J, Nieder M, Gerson SL, Lazarus HM, Krivit W. Allogeneic mesenchymal stem cell infusion for treatment of metachromatic leukodystrophy (MLD) and Hurler syndrome (MPS-IH). Bone Marrow Transplant. 2002;30(4):215-222
155. Müller I, Kustermann-Kuhn B, Holzwarth C, et al. In vitro analysis of multipotent mesenchymal stromal cells as potential cellular therapeutics in neurometabolic diseases in pediatric patients. Exp Hematol. 2006;34(10):1413- 1419 (Pubitemid 44374843)
156. Butters TD. Pharmacotherapeutic strategies using small molecules for the treatment of glycolipid lysosomal storage disorders. Expert Opin Pharmacother. 2007;8(4):427-435 (Pubitemid 46416411)
157. Yam GH, Bosshard N, Zuber C, Steinmann B, Roth J. Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants. Am J Physiol Cell Physiol. 2006;290(4):C1076-C1082
158. Fan JQ, Ishii S. Active-site-specific chaperone therapy for Fabry disease: yin and yang of enzyme inhibitors. FEBS J. 2007;274(19):4962-4971 (Pubitemid 47481192)
159. Hollak CE, Vedder AC, Linthorst GE, Aerts JM. Novel therapeutic targets for the treatment of Fabry disease. Expert Opin Ther Targets. 2007;11(6):821-833 (Pubitemid 46901399)
160. Butters TD. Gaucher disease. Curr Opin Chem Biol. 2007;11(4):412-418 (Pubitemid 47302848)
161. Yu Z, Sawkar AR, Kelly JW. Pharmacologic chaperoning as a strategy to treat Gaucher disease. FEBS J. 2007;274(19):4944-4950 (Pubitemid 47481193)
162. Okumiya T, Kroos MA, Vliet LV, Takeuchi H, Van der Ploeg AT, Reuser AJ. Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II. Mol Genet Metab. 2007;90(1):49-57
163. Parenti G, Zuppaldi A, Gabriela Pittis M, et al. Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease. Mol Ther. 2007;15(3):508-514 (Pubitemid 46306593)
164. Iwasaki H, Watanabe H, Iida M, et al. Fibroblast screening for chaperone therapy in beta-galactosidosis. Brain Dev. 2006;28(8):482-486 (Pubitemid 44051814)
165. Tropak MB, Reid SP, Guiral M, Withers SG, Mahuran D. Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff patients. J Biol Chem. 2004;279(14):13478-13487 (Pubitemid 38468872)
166. Zheng W, Padia J, Urban DJ, et al. Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease. Proc Natl Acad Sci U S A. 2007;104(32):13192-13197
167. Tropak MB, Blanchard JE, Withers SG, Brown ED, Mahuran D. High-throughput screening for human lysosomal beta-N-acetyl hexosaminidase inhibitors acting as pharmacological chaperones. Chem Biol. 2007;14(2):153-164 (Pubitemid 46274424)
168. Hodges BL, Cheng SH. Cell and gene-based therapies for the lysosomal storage diseases. Curr Gene Ther. 2006;6(2):227-241
169. Sands MS, Davidson BL. Gene therapy for lysosomal storage diseases. Mol Ther. 2006;13(5):839-849
170. + cells from patients with Gaucher disease: in vivo detection of transduced cells without myeloablation. Hum Gene Ther. 1998;9(17):2629-2640