Summary
The son of Kurdish, consanguineous parents (cousin marriage) presented from the first day of life with inititally focal and later generalized attacks of epileptic seizures and a severe generalized muscular hypotonia. Urinary excretion of 3-hydroxyisovalerate and of 3-methylcrotonylglycine was persistently increased. Diagnosis of isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency was confirmed in cultured fibroblasts. Psychomotor retardation was progressive, seizures and marked EEG abnormalities persisted. Treatment with leucine and protein-resistricted diet under hospital control did not significantly improve these conditions. The patient died from a cardiac and circulatory failure after a prolonged epileptic attack, with bronchial aspiration. The non-responsiveness of our patient to therapy and the fatal outcome indicate the existence of a severe neonatal variant of this otherwise rather benign genetic enzyme deficiency.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Bachmann C, Bühlmann R, Colombo JP (1984) Organic acids in urine: sample preparation for GC/MS.J Inher Metab Dis 7 (suppl 2): 126.
Bartlett K, Bennett MJ, Hill RP, Lashford LS, Pollit RJ, Worth HGJ (1984) Isolated biotinresistant 3-methylcrotonyl-CoA carboxylase deficiency presenting with life-threatening hypoglycaemia.J Inher Metab Dis 7: 182.
Beemer FA, Bartlett K, Duran M et al (1982) Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs.Eur J Pediatr 138: 351–354.
Finnie MDA, Cottrall K, Seakins JWT, Snedden W (1976) Massive excretion of 2-oxoglutaric acid and 3-hydroxyisovaleric acid in a patient with deficiency of 3-methylcrotonyl-CoA carboxylase.Clin Chim Acta 73: 513–519.
Gitzelmann B, Steinmann B, Niederwieser A, Fanconi S, Suormala T, Baumgartner R (1987) Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency presenting at age of 20 months with sopor, hypoglycaemia and ketoacidosis.J Inher Metab Dis 10 (suppl 2): 290–292.
Jakobs C, Sweetman L, Nyhan WL, Packman S (1984) Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: Contribution to the prenatal diagnosis of inherited disorders of leucine catabolism.J Inher Metab Dis 7: 15–20.
Kobori JA, Johnston K, Sweetman L et al (1989) Isolated 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye-like syndrome.Pediatr Res 25 (part 2): 142A.
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 Inher Metab Dis 12: 339–340.
Rolland MO, Divry P, Zabot MT et al (1991) Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 16-month-old-child.J Inher Metab Dis 14: 838–839.
Suormala T, Wick H, Bonjour JP, Baumgartner ER (1985) Rapid differential diagnosis of carboxylase deficiencies and evaluation of biotin responsiveness in a single blood sample.Clin Chim Acta 145: 151–162.
Sweetman L (1989) Branched chain organic acidurias. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds.The Metabolic Basis of Inherited Disease, 6th edn. McGraw-Hill, New York, 791–819.
Tsai MY, Johnson DD, Sweetman L, Berry SA (1989) Two siblings with biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency.J Pediatr 115: 110–113.
Wolf B, Heard GS (1986) Disorders of biotin metabolism. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds.The Metabolic Basis of Inherited Disease, 6th edn. McGraw-Hill, New York, 2083–2103.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Bannwart, C., Wermuth, B., Baumgartner, R. et al. Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome. J Inherit Metab Dis 15, 863–868 (1992). https://doi.org/10.1007/BF01800223
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01800223