Malonic aciduria (Q93821): Difference between revisions
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A acidúria malônica é uma acidúria orgânica causada pela deficiência de malonil-CoA descarboxilase que geralmente se apresenta na primeira infância com manifestações variáveis, incluindo atraso no desenvolvimento, hipotonia, convulsões, hipoglicemia, acidose metabólica, cardiomiopatia e diarreia. | |||
| description / en | description / en | ||
Malonic aciduria is an organic aciduria caused by deficiency of malonyl-CoA decarboxylase (MCD) that usually presents in early childhood with variable manifestations including developmental delay, hypotonia, seizures, hypoglycaemia, metabolic acidosis, cardiomyopathy and diarrhoea. | |||
Revision as of 08:55, 16 August 2026
Malonic aciduria is an organic aciduria caused by deficiency of malonyl-CoA decarboxylase (MCD) that usually presents in early childhood with variable manifestations including developmental delay, hypotonia, seizures, hypoglycaemia, metabolic acidosis, cardiomyopathy and diarrhoea.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1373430210 |
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| English | Malonic aciduria |
Malonic aciduria is an organic aciduria caused by deficiency of malonyl-CoA decarboxylase (MCD) that usually presents in early childhood with variable manifestations including developmental delay, hypotonia, seizures, hypoglycaemia, metabolic acidosis, cardiomyopathy and diarrhoea. |
