Characterization of liver involvement in defects of cholesterol biosynthesis: Long-term follow-up and review

American Journal of Medical Genetics

Volumn 132 A, Issue 2, 2005, Pages 144-151

  Rossi, Massimiliano ^a   Vajro, Pietro ^a   Iorio, Raffaele ^a   Battagliese, Antonella ^a   Brunetti Pierri, Nicola ^a   Corso, Gaetano ^a,b   Di Rocco, Maja ^c   Ferrari, Paola ^d   Rivasi, Francesco ^d   Vecchione, Raffaella ^a   Andria, Generoso ^a   Parenti, Giancarlo ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b UNIVERSITY OF FOGGIA   (Italy)

^c G GASLINI INSTITUTE   (Italy)

^d UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

Author keywords

Cholestasis; Cholesterol biosynthesis defects; Gamma glutamyl transferase; GGT; Lathosterolosis; Liver; Smith Lemli Opitz syndrome

Indexed keywords

CHOLESTEROL; GAMMA GLUTAMYLTRANSFERASE; MEVALONIC ACID;

ACIDURIA; CELL DEGENERATION; CHOLESTASIS; CHOLESTEROL DIET; CHOLESTEROL SYNTHESIS; CLINICAL ARTICLE; CONGENITAL MALFORMATION; DESMOSTEROLOSIS; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DYSPLASIA; FEMALE; GAMMA GLUTAMYL TRANSFERASE BLOOD LEVEL; HUMAN; HYPERMETABOLISM; HYPERTRANSAMINASEMIA; INBORN ERROR OF STEROID METABOLISM; INFANT; LATHOSTEROLOSIS; LEUKOCYTE DISORDER; LIVER BIOPSY; LIVER CELL; LIVER DISEASE; LIVER FIBROSIS; LIVER FUNCTION; LIVER METABOLISM; MALE; MALFORMATION SYNDROME; MENTAL DEFICIENCY; METABOLIC DISORDER; PRESCHOOL CHILD; PRIORITY JOURNAL; REVIEW; SMITH LEMLI OPITZ SYNDROME;

CHILD; CHILD, PRESCHOOL; CHOLESTEROL; FEMALE; FIBROSIS; FOLLOW-UP STUDIES; HUMANS; INFANT; LIVER; MALE; MUTATION; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; SMITH-LEMLI-OPITZ SYNDROME; TIME FACTORS;

EID: 19944429834     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30426     Document Type: Review

References (31)

1. Bialer MG, Penchaszadeh VB, Kahn E, Libes R, Krigsman G, Lesser ML. 1987. Female external genitalia and müllerian duct derivatives in a 46,XY infant with the Smith-Lemli-Opitz syndrome. Am J Med Genet 28:723-731.
2. Bove KE, Daugherty CC, Tyson W, Mierau G, Heubi JE, Balistreri WF, Setchell KD. 2000. Bile acid synthetic defects and liver disease. Pediatr Dev Pathol 3:1-16.
3. Brunetti-Pierri N, Corso G, Rossi M, Ferrari P, Balli F, Rivasi F, Annunziata I, Ballabio A, Russo AD, Andria G, Parenti G. 2002. Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3â-hydroxysteroid-Ä5-desaturase. Am J Hum Genet 71:952-958.
4. Clayton PT. 2003. Diagnosis of inherited disorders of liver metabolism. J Inherit Metab Dis 26:135-146.
5. Cunniff C, Kratz LE, Moser A, Natowicz MR, Kelley RI. 1997. Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. Am J Med Genet 68:263-269.
6. Curry CJR, Carey JC, Holland JS, Chopra D, Fineman R, Golabi M, Sherman S, Pagon RA, Allanson J, Shulman S, Barr MJ, McGravey V, Dabiri C, Schimke N, Ives E, Hall BD. 1987. Smith-Lemli-Opitz syndrome-type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. Am J Med Genet 26:45-57.
7. De Brasi D, Esposito T, Rossi M, Parenti G, Sperandeo MP, Zuppaldi A, Bardaro T, Ambruzzi MA, Zelante L, Ciccodicola A, Sebastio G, D'Urso M, Andria G. 1999. Smith-Lemli-Opitz syndrome: Evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations. Eur J Hum Genet 7:937-940.
8. Deutsch GH, Sokol RJ, Stathos TH, Knisely AS. 2001. Proliferation to paucity: Evolution of bile duct abnormalities in a case of Alagille syndrome. Pediatr Dev Pathol 4:559-563.
9. Elferink RO. 2003. Cholestasis. Gut 52(Suppl 2):ii42-ii48.
10. FitzPatrick DR, Keeling JW, Evans MJ, Kan AE, Bell JE, Porteous ME, Mills K, Winter RM, Clayton PT. 1998. Clinical phenotype of desmosterolosis. Am J Med Genet 75:145-152.
11. Forchielli ML, Walker WA. 2003. Nutritional factors contributing to the development of cholestasis during total parenteral nutrition. Adv Pediatr 50:245-267.
12. Frézal J. 1998. Génatlas database, genes and development defects. C R Acad Sci III 321:805-817.
13. Gissen P, Johnson CA, Morgan NV, Stapelbroek JM, Forshew T, Cooper WN, McKiernan PJ, Klomp LW, Morris AA, Wraith JE, McClean P, Lynch SA, Thompson RJ, Lo B, Quarrell OW, Di Rocco M, Trembath RC, Mandel H, Wali S, Karet FE, Knisely AS, Houwen RH, Kelly DA, Maher ER. 2004. Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nat Genet 36:400-404.
14. Herman GE. 2003. Disorders of cholesterol biosynthesis: Prototypic metabolic malformation syndromes. Hum Mol Genet 12:R75-R88.
15. Hinson DD, Rogers ZR, Hoffmann GF, Schachtele M, Fingerhut R, Kohlschütter A, Kelley RI, Gibson KM. 1998. Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency. Am J Med Genet 78:408-412.
16. Hoffmann GF, Charpentier C, Mayatepek E, Mancini J, Leichsenring M, Gibson KM, Divry P, Hrebicek M, Lehnert W, Sartor K, Trefz FK, Rating D, Bremer HJ, Nyhan WL. 1993. Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics 91:915-921.
17. Honda A, Salen G, Shefer S, Batta AK, Honda M, Xu G, Tint GS, Matsuzaki Y, Shoda J, Tanaka N. 1999. Bile acid synthesis in the Smith-Lemli-Opitz syndrome: Effects of dehydrocholesterols on cholesterol 7alpha-hydroxylase and 27-hydroxylase activities in rat liver. J Lipid Res 40:1520-1528.
18. Kelley RI, Hennekam RC. 2000. The Smith-Lemli-Opitz syndrome. J Med Genet 37:321-335.
19. Kelley RI, Herman GE. 2001. Inborn errors of sterol biosynthesis. Annu Rev Genomics Hum Genet 2:299-341.
20. Krakowiak PA, Wassif CA, Kratz L, Cozma D, Kovarova M, Harris G, Grinberg A, Yang Y, Hunter AG, Tsokos M, Kelley RI, Porter FD. 2003. Lathosterolosis: An inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency. Hum Mol Genet 12:1631-1641.
21. Lopez SL, Paganelli AR, Siri MV, Ocana OH, Franco PG, Carrasco AE. 2003. Notch activates sonic hedgehog and both are involved in the specification of dorsal midline cell-fates in Xenopus. Development 130:2225-2238.
22. Natowicz MR, Evans JE. 1994. Abnormal bile acids in the Smith-Lemli-Opitz syndrome. Am J Med Genet 50:364-367.
23. Ness GC, Lopez D, Borrego O, Gilbert-Barness E. 1997. Increased expression of low-density lipoprotein receptors in a Smith-Lemli-Opitz infant with elevated bilirubin levels. Am J Med Genet 68:294-299.
24. Nwokoro NA, Mulvihill JJ. 1997. Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome. Am J Med Genet 68:315-321.
25. Oosterwijk JC, Mansour S, van Noort G, Waterham HR, Hall CM, Hennekam RC. 2003. Congenital abnormalities reported in Pelger-Huet homozygosity as compared to Greenberg/HEM dysplasia: Highly variable expression of allelic phenotypes. J Med Genet 40:937-941.
26. Parnes S, Hunter AG, Jimenez C, Carpenter BF, MacDonald I. 1990. Apparent Smith-Lemli-Opitz syndrome in a child with a previously undescribed form of mucolipidosis not involving the neurons. Am J Med Genet 35:397-405.
27. Pierquin G, Peeters P, Roels F, Vamos E, Brucher JM, Tint GS, Honda A, Van Regemorter N. 1995. Severe Smith-Lemli-Opitz syndrome with prolonged survival and lipid abnormalities. Am J Med Genet 56:276-280.
28. Ryan AK, Bartlett K, Clayton P, Eaton S, Mills L, Donnai D, Winter RM, Burn J. 1998. Smith-Lemli-Opitz syndrome: A variable clinical and biochemical phenotype. J Med Genet 35:558-565.
29. Steiner RD, Linck LM, Flavell DP, Lin DS, Connor WE. 2000. Sterol balance in the Smith-Lemli-Opitz syndrome. Reduction in whole body cholesterol synthesis and normal bile acid production. J Lipid Res 41:1437-1447.
30. Vajro P, Amelio A, Stagni A, Paludetto R, Genovese E, Giuffre M, DeCurtis M. 1997. Cholestasis in newborn infants with perinatal asphyxia. Acta Paediatr 86:895-898.
31. Witsch-Baumgartner M, Fitzky BU, Ogorelkova M, Kraft HG, Moebius FF, Glossmann H, Seedorf U, Gillessen-Kaesbach G, Hoffmann GP, Clayton P, Kelley RI, Utermann G. 2000. Mutational spectrum in the Delta7-stevol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. Am J Hum Genet 66:402-412.