Dilated cardiomyopathy due to malonyl-CoA decarboxylase deficiency (Q95443)
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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.
| Language | Label | Description | Also known as |
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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. |
