ISSN:
1432-1076
Keywords:
Key words Malonyl coenzyme A decarboxylase deficiency
;
Cardiomyopathy
;
Inborn errors of metabolism
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract A new case of mitochondrial malonyl coenzyme A decarboxylase deficiency is described. The patient presented with an initial episode of metabolic acidosis, seizures, hypoglycemia, and cardiac failure at 2 months of age which slowly resolved. Subsequent evaluations at 4 years of age for developmental delay revealed a prominent elevation of malonic acid in urine. Malonyl carnitine was also elevated. The activity of malonyl CoA decarboxylase in cultured fibroblasts was 7% of normal. Conclusion Malonyl CoA decarboxylase deficiency may result in inhibition of fatty acid oxidation, which may account for the cardiomyopathy.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s004310050619
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