UNLABELLED: 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.
UNLABELLED: 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.
Authors: N Voilley; R Roduit; R Vicaretti; C Bonny; G Waeber; J R Dyck; G D Lopaschuk; M Prentki Journal: Biochem J Date: 1999-05-15 Impact factor: 3.857
Authors: Suk Youl Park; Sang Hak Lee; Jieun Lee; Che Hun Jung; Jeong Sun Kim Journal: Acta Crystallogr Sect F Struct Biol Cryst Commun Date: 2007-11-30
Authors: E J Footitt; J Stafford; M Dixon; M Burch; C Jakobs; G S Salomons; M A Cleary Journal: J Inherit Metab Dis Date: 2010-06-15 Impact factor: 4.982