Dilated cardiomyopathy due to malonyl-CoA decarboxylase deficiency (Q95443): Difference between revisions
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Cardiomiopatia dilatada devida a deficiência de malonil-CoA descarboxilase (acidúria malônica) é a presença de cardiomiopatia dilatada em associação com um distúrbio de oxidação de ácidos graxos devido a uma mutação do gene MLYCD, localizado no cromossomo 16q24. Esta condição autossômica recessiva é adicionalmente caracterizada por atraso no desenvolvimento, hipotonia, convulsões, hipoglicemia, acidose metabólica e diarreia. | |||
| description / en | description / en | ||
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. | |||
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.
| 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. |
