Short chain acyl-CoA dehydrogenase deficiency (Q93437)
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Acyl-CoA dehydrogenase, short chain (SCAD) deficiency is an inborn error of mitochondrial short-chain fatty acid oxidation with variable clinical presentation (muscle tone abnormalities, hypoglycaemia and vomiting at birth, or more frequently, a milder and a specific form with hypotonia and developmental delay) and overexcretion of urinary ethylmalonic acid, and inconstantly of methylsuccinic acid and butyrylglycine.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_180018315 |
||
| English | Short chain acyl-CoA dehydrogenase deficiency |
Acyl-CoA dehydrogenase, short chain (SCAD) deficiency is an inborn error of mitochondrial short-chain fatty acid oxidation with variable clinical presentation (muscle tone abnormalities, hypoglycaemia and vomiting at birth, or more frequently, a milder and a specific form with hypotonia and developmental delay) and overexcretion of urinary ethylmalonic acid, and inconstantly of methylsuccinic acid and butyrylglycine. |
Statements
CID11:ID_180018315
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