| SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (SCAD) | |
| ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF | |
|
201470
OMIM = Online Mendelian Inheritance of Men | |
|
26792 | |
| Short-chain specific acyl-CoA dehydrogenase, mitochondrial | |
| 1.3.8.1 | |
| rare (1:25000 - 1:220000), probably underestimated! autosomal recessive 2 phenotypes: - episodic hypoglycemia and ketosis - developmental delay and hypotonia [Bok, AL et al. 2003] | |
| Laboratory findings | Butyryl/Isobutyrylcarnitine (C4) inc (plasma) 2-Methylsuccinic acid inc (urine) Acyl-CoA dehydrogenase dec (fibroblasts) Acylcarnitine/carnitine ratio inc (urine) Adipic acid inc (urine) Ammonia normal/inc (blood) Butyrylglycine normal/inc (blood) Butyrylglycine normal/inc (urine) D-Glucose normal/dec (serum) Dimethylglcine normal/inc (urine) Ethylmalonic acid inc (urine) Hexanoylglycine inc (urine) L-Lactic acid normal/inc (blood) pH dec (blood) |
| Symptoms | hypoglycemia developmental delay dysmorphism epilepsy exercise intolerance failure to thrive hypotonia behavior, abnormal or bizarre, confusion cholestasis contractures, joints feeding difficulties, poor feeding hyperammonemia lactic acidosis maternal acute fatty liver of pregnancy metabolic acidosis microcephaly (<2 SD for age) muscle weakness myopathy onset, childhood onset, infancy onset, neonatal ophthalmoplegia Organic acids, urine peripheral neuropathy psychosis rhabdomyolysis seizures speech development, delayed, abnormal vomiting |