Malonyl-CoA decarboxylase deficiency
Definition:
Malonyl-CoA decarboxylase deficiency is a rare autosomal recessive disease characterized by developmental delay, seizure, hypoglycemia, cardiomyopathy and malonic aciduria. Malonyl-CoA decarboxylase (MCD) is an enzyme involved in the metabolism of fatty acids synthesis and is important in muscle and brain metabolism. Mutations in MLYCD gene that encodes MCD, result in a deficiency of MCD activity.
References:
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[1]. D R FitzPatrick, et al. The molecular basis of malonyl-CoA decarboxylase deficiency. Am J Hum Genet. 1999 Aug;65(2):318-26. [Content Brief]
[2]. S Surendran, et al. Malonyl CoA decarboxylase deficiency: C to T transition in intron 2 of the MCD gene. J Neurosci Res. 2001 Sep 15;65(6):591-4. [Content Brief]
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