Total: 1 |
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PMID (PMCID) | ||
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9869665 |
MALE | Infant |
Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase. | ||
Gao J, Waber L, Bennett MJ, Gibson KM, Cohen JC. J Lipid Res. 1999;40(1):178-82. |
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The metabolic role of malonyl CoA decarboxylase has not been fully defined, but deficiency of the enzyme has been associated with mild mental retardation, seizures, hypotonia, cardiomyopathy, vomiting, hypoglycemia, metabolic acidosis, and malonic aciduria. |