Dilated cardiomyopathy due to malonyl-CoA decarboxylase deficiency (Q95443): Difference between revisions
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Revision as of 11:13, 16 August 2026
Dilated cardiomyopathy due to malonyl-CoA decarboxylase deficiency (malonic aciduria) is the presence of dilated cardiomyopathy in association with a fatty acid oxidation disorder due to a mutation of the MLYCD gene, located on chromosome 16q24. This autosomal recessive condition is additionally characterised by developmental delay, hypotonia, seizures, hypoglycaemia, metabolic acidosis and diarrhoea.
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| default for all languages | ID_1578866329 |
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| English | Dilated cardiomyopathy due to malonyl-CoA decarboxylase deficiency |
Dilated cardiomyopathy due to malonyl-CoA decarboxylase deficiency (malonic aciduria) is the presence of dilated cardiomyopathy in association with a fatty acid oxidation disorder due to a mutation of the MLYCD gene, located on chromosome 16q24. This autosomal recessive condition is additionally characterised by developmental delay, hypotonia, seizures, hypoglycaemia, metabolic acidosis and diarrhoea. |
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CID11:ID_1578866329
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