Short chain acyl-CoA dehydrogenase deficiency (Q93437): Difference between revisions
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| description / pt-br | description / pt-br | ||
A deficiência de acil-CoA desidrogenase de cadeia curta é um erro inato da oxidação de ácidos graxos de cadeia curta mitocondrial com apresentação clínica variável (anormalidades do tônus muscular, hipoglicemia e vômitos no nascimento,ou mais frequentemente, uma forma mais branda, com hipotonia e atraso no desenvolvimento) e aumento da excreção de ácido etilmalônico urinário e inconstantemente de ácido metilsuccínico e butirilglicina. | |||
| description / en | description / en | ||
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. | |||
Revision as of 08:32, 16 August 2026
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 |
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| 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. |
