Malonic aciduria (Q93821)
From determinar.ia.br - Determine suas informações
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 |
||
| 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. |
Statements
CID11:ID_1373430210
0 references
