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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease cardiomyopathy
Comorbidity C0020598|hypoglycemia
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PubMedID- 22830024 For example, a rare genetic disorder of the fatty acid beta-oxidation cycle caused by mutations in both alleles of the alpha subunit (hadha) of the mitochondrial trifunctional protein may result in a severe neonatal cardiomyopathy with hypoketotic hypoglycemia and hepatic encephalopathy, often progressing to coma and neonatal death [82, 83].

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