An asymptomatic infant with isolated 3-methylcrotonyl-coenzyme a carboxylase deficiency detected by newborn screening for maple syrup urine disease

European Journal of Pediatrics

Volumn 156, Issue 9, 1997, Pages 713-715

  Ihara, K ^a   Kuromaru, R ^a   Inoue, Y ^b   Kuhara, T ^b   Matsumoto, I ^b   Yoshino, M ^c   Fukushige, J ^a  

^a KYUSHU UNIVERSITY   (Japan)

^b KANAZAWA MEDICAL UNIVERSITY   (Japan)

^c KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Gas chromatog raphy mass spectrometry; Isolated 3 methylcrotonyl coenzyme A car boxylase; Newborn mass screening

Indexed keywords

CARBOXYLIC ACID; LEUCINE; METHYLCROTONOYL COENZYME A CARBOXYLASE;

ARTICLE; CASE REPORT; CLINICAL FEATURE; ENZYME DEFICIENCY; GAS CHROMATOGRAPHY; HUMAN; MALE; MAPLE SYRUP URINE DISEASE; MASS SPECTROMETRY; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; URINALYSIS;

CARBON-CARBON LIGASES; CHILD, PRESCHOOL; COMBINED MODALITY THERAPY; DIAGNOSIS, DIFFERENTIAL; FIBROBLASTS; FOLLOW-UP STUDIES; HUMANS; INFANT; INFANT, NEWBORN; JAPAN; MALE; MAPLE SYRUP URINE DISEASE; NEONATAL SCREENING;

EID: 0030924002     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310050696     Document Type: Article

References (23)

1. Bannwart C, Wermuth B, Baumgartner R, Suormala T, Wiesmann UN (1992) Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome. J Inherited Metab Dis 15:863-868
2. Bartlett K, Bennett MJ, Hill RP, Lashford LS, Pollitt RJ, Worth HGJ (1984) Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting with life-threatening hypoglycaemia. J Inherited Metab Dis 7:182
3. Baumgartner ER, Suormala T, Wiesmann UN, Pegel M, Niederhoff H, Lehnen W (1991) Isolated biotin-resistant β-methylcrolonyl-CoA carboxylase (MCC) deficiency: a severe disease. 29th Annual Symposium of the SSIEM. London
4. Beemer FA, Bartlett K, Duran M, Ghneim HK, Wadman SK, Bruinvis L, Ketting D (1982) Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs. Eur J Pediatr 138:351-354
5. Elpeleg ON, Havkin S, Barash V, Jakobs C, Glick B, Shalev RS (1992) Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency. J Pediatr 121:407-410
6. Fenton WA, Rosenberg LE (1995) Disorders of propionate and methylmalonate metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 1423-1449
7. Gibson KM, Lee CF, Hoffmann GF (1994) Screening for defects of branched-chain amino acid metabolism. Eur J Pediatr 153 [Suppl 1]:S62-67
8. Gitzelmann R, Steinmann B, Niederwieser A, Fanconi S, Suormala T, Baumgartner R (1987) Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency presenting at age 20 months with sopor, hypoglycaemia and ketoacidosis. J Inherited Metab Dis 10 [Suppl 2]:290-292
9. Hove JLK van, Rutledge SL, Nada MA, Kahler SG, Millington DS (1995) 3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency. J Inherited Metab Dis 18:592-601
10. Kobori JA, Johnston K, Sweetman L, Schmidt K, Jurecki E, Wolf B, Goodman S, Packman S (1989) Isolated 3-methylcrotonyl CoA carboxylase deficiency presenting as a Reye's-like syndrome (abstract). Pediatr Res 25:142A
11. Layward EM, Tanner MS, Pollitt RJ, Bartlett K (1989) Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye syndrome-like illness. J Inherited Metab Dis 12:339-340
12. Lehnert W, Niederhoff H, Suormala T, Baumgartner ER (1996) Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset. Eur J Pediatr 155:568-572
13. Matsumoto I, Kuhara T (1997) A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry. Mass Spectrom Rev (in press)
14. Matsumoto M, Kuhara T, Inoue Y, Shinka T, Matsumoto I, Kajita M (1990) Mass spectrometric identification of 2-hydroxydodecanedioic acid and its homologues in urine from patients with hopantenate therapy during clinical episode. Biomed Environ Mass Spectrom 19:171-175
15. Mourmans J, Bakkeren J, Jong J de, Wevers R, Diggelen OP van, Suormala T, Baumgartner R, Wendel U (1995) Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology. J Inherited Metab Dis 18:643-645
16. Ning C, Kuhara T, Matsumoto I (1996) Simultaneous metabolic profile studies of three patients with fatal infantile mitochondrial myopathy-de Toni-Fanconi-Debré syndrome by GC MS. Clin Chim Acta 247:197-200
17. Röschinger W, Millington DS, Gage DA, Huang ZH, Sweetman L (1992) 3-Hydroxyisovalerylcarnitine in patients with deficiency of 3-methylcrotonyl-CoA carboxylase. Abstract P-124. Society for the Study of Inborn Errors of Metabolism
18. Rolland MO, Divry P, Zabot MT, Guibaud P, Gomez S, Lachaux A, Loras I (1991) Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 16-month-old child. J Inherited Metab Dis 14:838-839
19. Rutledge SL, Berry GT, Stanley CA, Hove JLK van, Millington D (1995) Glycine and L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency. J Inherited Metab Dis 18:299-305
20. Sweetman L, Williams JC (1995) Branched chain organic acidurias. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 1387-1422
21. Thoene J, Baker H, Yoshino M, Sweetman L (1981) Biotin-responsive carboxylase deficiency associated with subnormal plasma and urinary biotin. N Engl J Med 304:817-820
22. Tsai MY, Johnson DD, Sweetman L, Berry SA (1989) Two siblings with biotin-resistant 3-methylcrotonyl-coenzyme A carboxylase deficiency. J Pediatr 115:110-113
23. Tuchman M, Berry SA, Thuy LP, Nyhan WL (1993) Partial methylcrotonyl-coenzyme A carboxylase deficiency in an infant with failure to thrive, gastrointestinal dysfunction, and hypertonia. Pediatrics 91:664-666