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. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/1578866329 / rank | |||||||||||||||
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CID11:ID_1578866329 | |||||||||||||||
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dki-india-ID_1578866329 | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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15 August 2026
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Latest 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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dki-india-ID_1578866329
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Concluído
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15 August 2026
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