| 单词 |
short/branched-chain acyl-coa dehydrogenase deficiency |
| 释义 |
short/branched-chain acyl-CoA dehydrogenase deficiency short/branched-chain acyl-CoA dehydrogenase deficiency An autosomal recessive disorder (OMIM:610006) characterised by a defect in catabolism of L-isoleucine, resulting in increased 2-methylbutyrylglycine and 2-methylbutyrylcarnitine in blood and urine, which trigger seizures and psychomotor delay.
Molecular pathology
Defects in ACADSB, which encodes an enzyme involved in fatty acid metabolism, cause short/branched-chain acyl-CoA dehydrogenase deficiency. |
| 随便看 |
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