Branched-chain organic acidurias/acidaemias

Inborn Metabolic Diseases: Diagnosis and Treatment

Volumn , Issue , 2012, Pages 277-296

  De Baulny, Helene Ogier ^a   Dionisi Vici, Carlo ^b   Wendel, Udo ^c  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c University Children   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84928965076     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-642-15720-2_19     Document Type: Chapter

References (87)

1. Gascon GC, Ozand PT, Brismar J (1994) Movement disorders in childhood organic acidurias clinical, neuroimaging, and biochemical correlations. Brain Dev 16:94-103
2. Fariello G, Dionisi-Vici C, Orazi C et al. (1996) Cranial ultrasonography in maple syrup urine disease. AJNR Am J Neuroradiol 17:311-315
3. Morton DH, Strauss KA, Robinson DL et al. (2002) Diagnosis and treatment of maple syrup urine disease: a study of 36 patients. Pediatrics 109:999-1008
4. Treacy E, Clow CL, Reade TR et al. (1992) Maple syrup urine disease: interrelations between branched-chain amino-, oxo- and hydroxyacids; implications for treatment; associations with CNS dysmyelination. J Inherit Metab Dis 15:121-135
5. Schoenberger S, Schweiger B, Schwahn B et al. (2004) Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease. Mol Genet Metab 82:69-75
6. Kleopa KA, Raizen DM, Friedrich CA, Brown MJ, Bird SJ (2001) Acute axonal neuropathy in maple syrup urine disease. Muscle Nerve 24:284-287
7. Brismar J, Ozand PT (1994) CT and MR of the brain in disorders of the propionate and methylmalonate metabolism. AJNR Am J Neuroradiol 15:1459-1473
8. Chemelli AP, Schocke M, Sperl W et al. (2000) Magnetic resonance spectroscopy (MRS) in five patients with treated propionic acidemia. J Magn Reson Imaging 11:596-600
9. Williams ZR, Hurley PE, Altiparmark UE et al. (2009) Late onset optic neuropathy in methylmalonic and propionic acidemia. Am J Ophthalmol 147: 929-933
10. Horster F, Garbade SF, Zwickler T et al. (2009) Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters. J Inherit Metab Dis 32:630-639
11. Rutledge SL, Geraghty M, Mroczek E et al. (1993) Tubulointerstitial nephritis in methylmalonic acidemia. Pediatr Nephrol 7:81-82
12. Leonard JV (1995) The management and outcome of propionic and methylmalonic acidaemia. J Inherit Metab Dis 18:430-434
13. Lane TN, Spraker MK, Parker SS (2007) Propionic acidemia manifesting with low isoleucine generalized exfoliative dermatosis. Pediatr Dermatol 24:508-510
14. Gilmore A, Bock H-G, Nowicki M (2008) Hyperamylasemia/hyperlipasemia in a child with propionic acidemia. Am J Med Genet A 146A: 3090-3091
15. Romano S, Valayannopoulos V, Touati G et al. (2010) Cardiomyopathies in propionic aciduria are reversible after liver transplantation. J Pediatr 156:128-134
16. Baumgartner D, Scholl-Burgi S, Sass JO et al. (2007) Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia. J Pediatr 150: 192-197
17. Sato S, Kasahara M, Fukuda A et al. (2009) Liver transplantation in a patient with propionic acidemia requiring extracorporeal membrane oxygenation during severe metabolic decompensation. Pediatr Transplant 13:790-793
18. Morath MA, Okun JG, Muller IB et al. (2008) Neurodegeneration and chronic renal failure in methylmalonic aciduria a pathophysiological approach. J Inherit Metab Dis 31:35-43
19. Sbai D, Narcy C, Thompson GN et al. (1994) Contribution of oddchain fatty acid oxidation to propionate production in disorders of propionate metabolism. Am J Nutr 59:1332-1337
20. Leonard JV (1996) Stable isotope studies in propionic and methylmalonic acidaemia. Eur J Pediatr 156 [Suppl 1]:S67-S69
21. Aevarsson A, Chuang JL, Wynn RM et al. (2000) Crystal structure of human branched-chain α-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease. Structure 8:277-291
22. Ensenauer R, Vockley J, Willard JM et al. (2004) A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am J Hum Genet 75:1136-1142
23. Perez-Cerda C, Clavero S, Perez B et al. (2003) Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts. Biochim Biophys Acta 1638:43-49
24. Perez B, Desviat LR, Rodriguez-Pombo P et al. (2003) Propionic acidemia: identification of twenty–four novel mutations in Europe and North America. Mol Genet Metab 78:59-67
25. Yorifuji T, Kawai M, Muroi J et al. (2002) Unexpectedly high prevalance of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications. Hum Genet 111:161-165
26. Acquaviva C, Benoist JF, Pereira S et al. (2005) Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut (0) and mut (-) forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene. Hum Mutat 25:167-176
27. Lemer-Ellis JP, Dobson CM, Wai T et al. (2004) Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism. Hum Mutat 24:509-516
28. Jorge-Finnigan A, Aguado C, Sanchez-Alcudia R et al. (2010) Functional and structural analysis of five mutations identified in methylmalonic acidurie cblB type. Hum Mutat 31:1-10
29. Martinez MA, Rincon A, Desviat LR, Merinero B, Ugarte M, Perez B (2005) Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. Mol Genet Metab 84:317-325
30. Elpeleg O, Miller C, Hershkovitz E et al. (2005) Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet 76:1081-1086
31. Carrozzo R, Dionisi-Vici C, Steuerwald U et al. (2007) SUCLA2 Mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain 130:862-874
32. Ostergaard E, Hansen FJ, Sorensen N, et al. (2007) Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. Brain 130:853-861
33. Ostergaard E, Christensen E, Kristensen E et al. (2007) Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. Am J Hum Genet 81:383-387
34. Ostergaard E, Schwartz M, Batbayli M et al. (2010) A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria. Eur J Pediatr 169:201-205
35. Bikker H, Bakker HD, Abeling NG et al. (2006) A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. Hum Mutat 27: 640-643
36. Dobson MC, Gradinger A, Longo N et al. (2006) Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic acidurie. Mol Genet Metab 88: 327-333
37. Filipowicz HR, Ernst SL, Ashurst CL, Pasquali M, Longo N (2006) Metabolic changes associated with hyperammonemia in patients with propionic acidemia. Mol Genet Metab 88:123-130
38. Nissim I (1999) New aspects of glutamine/glutamate metabolism: the role of acute pH changes. Am J Physiol 277:F493-497
39. Wilcken B, Wiley V, Hammond J, Carpenter K (2003) Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med 348:2304-2312
40. Schulze A, Lindner M, Kohlmuller D et al. (2003) Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics 111:1399-1406
41. Rinaldo P, Tortorelli S, Matern D (2004) Recent developments and new applications of tandem mass spectrometry in newborn screening. Curr Opin Pediatr 16:427-433
42. MacDonald A, Dixon M, White F (2008) Disorders of amino acid metabolism, organic acidemias and urea cycle defects. In: Shaw V, Lawson M (eds) Clinical paediatric dietetics, 3rd edn. Blackwell, Oxford, UK, chap 17
43. Touati G, Valayannopoulos V, Mention K et al. (2006) Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixtures. J Inherit Metab Dis 29:288-299
44. Puliyanda DP, Harmon WE, Peterschmitt MJ, Irons M, Somers MJ (2002) Utility of hemodialysis in maple syrup urine disease. Pediatr Nephrol 17:239-242
45. Strauss KA, Wardley B, Robinson D et al. (2010) Classical maple syrup urine disease and brain development: principles of management and formula design. Mol Genet Metab 99: 333-345
46. Grunewald S, Hinrichs F, Wendel U (1998) Pregnancy in a woman with maple syrup urine disease. J Inher Metab Dis 21:89-94
47. Strauss KA, Mazariegos GV, Sindhi R et al. (2006) Elective liver transplantation for the treatment of classical maple syrup urine disease. Am J Transplant 6: 557-564
48. Khanna A, Hart M, Nyhan WL et al. (2006) Domino liver transplantation in maple syrup urine disease. Liver Transplant 12: 876-882
49. Hilliges C, Awiszus D, Wendel U (1993) Intellectual performance of children with maple urine disease. Eur J Pediatr 152:144-147
50. Hoffmann B, Helbling C, Schadewaldt P, Wendel U (2006) Impact of longitudinal plasma leucine levels in the intellectual outcome in patients with classic MSUD. Pediatr Res 59:17-20
51. Fries MH, Rinaldo P, Schmidt-Sommerfeld E et al. (1996) Isovaleric acidemia: response to a leucine load after three weeks of supplementation with glycine, l-carnitine, and combined glycine-carnitine therapy. J Pediatr 129:449-452
52. Vockley J, Ensenauer R (2006) Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. Am J Med Genet C Semin Med Genet 142:95-103
53. Shih VE, Aubry RH, De Grande G et al. (1984) Maternal isovaleric acidemia. J Pediatr 105:77-78
54. Picca S, Dionisi-Vici C, Abeni D et al. (2001) Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators. Pediatr Nephrol 16:862–867
55. Filippi L, Gozzimi E, Fiorini et al. (2010) N-Carbamoylglutamate in emergency management of hyperammonemia in neonatal onset propionic and methylmalonic aciduria. Neonatology 97: 286-290
56. Matern D, Seydewitz, HH, Lehnert W et al. (1996) Primary treatment of propionic acidemia complicated by acute thiamine deficiency. J Pediatr 129:758-760
57. Touati G, Ogier de Baulny H, Rabier D et al. (2003) Beneficial effects of growth hormone treatment in children with methylmalonic and propionic acidurias (abstract). J Inherit Metab Dis 26 [Suppl 2]:40
58. Baumgartner ER, Viardot C (1995) Long-term follow-up of 77 patients with isolated methylmalonic acidaemia. J Inherit Metab Dis 18:138-142
59. De Baulny HO, Benoist JF, Rigal O et al. (2005) Methylmalonic and propionic acidemias: management and outcome. J Inherit Metab Dis 28:415-423
60. Dionisi Vici C, Deodato F, Roschinger W et al. (2006) ≫Classical≪ organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry. J Inherit Metab Dis 29:383-389
61. Lubrano R, Eli M, Rossi M et al. (2007) Renal transplant in methylmalonic acidemia: could it be the best option? Report on a case at ten years and review of the literature. Pediatr Nephrol 22:1209-1214
62. Diss E, Iams J, Reed N et al. (1995) Meythylmalonic aciduria in pregnancy: a case report. Am J Obstet Gynecol 172:1057-1059
63. Deodato F, Rizzo C, Boenzi S et al. (2002) Successful pregnancy in a woman with mut- methylmalonic acidaemia. J Inherit Metab Dis 25:133-134
64. Kasahara M, Horikawa R, Tagawa M et al. (2006) Current role of liver transplantation for methylmalonic acidemai: a review of literature. Pediatr Transplant 10: 943-947
65. Barshes NR, Vanatta, Patel AJ et al. (2006) Evaluation and management of patients with propionic acidemia undergoing liver transplantation: a comprehensive review. Pediatr Transplant 10: 773-78
66. Lubrano R, Elli M, Rossi M et al. (2007) Renal transplant in methylmalonic acidemia: could it be the best option? Report on a case at 10 years and review of the literature. Pediatr Nephrol 22:1209-1214
67. Stricki M, Suormala T, Fowler B, Valle D, Baumgartner MR (2009) Cryptic exon activation by disruption exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency. J Biol Chem 284: 28953-28957
68. Baumgartner MR, Dantas MF, Suormala T et al. (2004) Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. Am J Hum Genet 75:790-800
69. Arnold GL, Koeberl DD, Matern D et al. (2008) A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Mol Genet Metab 93:363-370
70. Wortmann SB, Kluijtmans LA, Engelke UF et al. (2010) The 3-methylglutaconic acidurias: what’s new ? J Inher Metab Dis Sep 30 (Epub ahead of print)
71. Ijlst L, Loupatty FJ, Ruiter JP et al. (2002) 3-Methylglutaconic aciduria type I is caused by mutations in AUH. Am J Hum Genet 71:1463-1466
72. Mack M, Schniegler-Mattox U, Peters V et al. (2006) Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism. FEBS J 273:2012-2022
73. Gunay-Aygun M, Gahl WA, Anikster Y (updated 2009) 3-Methylglutaconic aciduria type III. In Pagon RA, Bird TC, Dolan CR, Stephens K (eds) GeneReviews [internet]. University of Washington, Seattle 1993-2006, 28 Jul
74. Wortmann SB, Rodenburg RJ, Jonckheere A et al. (2009) Biochemical and genetic analysis of 3-methylglutaconic acidurie type IV: a diagnostic strategy. Brain 132:136-146
75. Di Rosa G, Deodato F, Loupatty FJ et al. (2006) Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria. J Inherit Metab Dis 29:546-550
76. Houstek J, Kmoch S, Zeman J (2009) TMEM70-protein – a novel ancillary factor of mammalian ATP synthase. Biochim Biophys Acta 1787:529-532
77. Davey KM, Parboosingh JS, McLeod DR et al. (2006) Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. J Med Genet 43:385–393
78. Sass JO, Ensenauer R, Roschinger W et al. (2008) 2-Methylbutyrylcoenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. Mol Genet Metab 93:30-35
79. Garcia-Villoria J, Navarro-Sastre A, Fons C et al. (2009) Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis. Clin Biochem 42:27-33
80. Yang SY, He XY, Miller D (2007) HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids. Mol Genet Metab 92:36–42
81. Pedersen CB, Bischoff C, Christensen E et al. (2006) Variations in IBD (ACAD8) in children with elevated C4-acylcarnitine detected by tandem mass spectrometry newborn screening. Pediatr Res 60:315-320
82. Oglesbee D, He M, Majumber N et al. (2007) Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Genet Med 9:108-116
83. Chambliss KL, Gray RG, Rylance G et al. (2000) Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency. J Inherit Metab Dis 23 497-504
84. Brown GK, Huint SM, Scholem R et al. (1982) Hydroxyisobutyrylcoenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations. Pediatrics 70:532-538
85. Salomons GS, Jakobs C, Landegge Pope L et al. (2007) Clinical, enzymatic and molecular characterization of nine new patients with malonyl- coenzyme A decarboxylase deficiency. J Inherit Metab Dis 30: 23-28
86. Sloan JL, Johnston JJ, Manoli I et al. (2011) Exone sequencing identifies ACSF 3 as a cause of combined malonic and methymlonic aciduria. Nature Genetics 43: 883-886
87. Footitt EJ, Stafford J, Dixon M et al. (2010) Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy. J Inherit Metab Dis DOI 10.1007/s10545-010- 9137-z