| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 (MC1DN20, ACAD9) | |
| ACAD9 DEFICIENCY; ACYL CoA DEHYDROGENASE 9 DEFICIENCY (ACAD9) | |
|
611126
OMIM = Online Mendelian Inheritance of Men | |
|
99901 | |
| Acyl-CoA dehydrogenase family member 9, mitochondrial | |
| very rare autosomal recessive mutation in the ACAD9 gene | |
| Laboratory findings | 2-Hydroxybutyric acid inc (urine) Ammonia normal/inc (blood) Creatine kinase inc (plasma) D-Glucose dec (plasma) Dicarboxylic acids inc (urine) L-Carnitine dec (plasma) L-Lactic acid inc (blood) Lactate dehydrogenase (LDH) inc (serum) Long chain acyl carnitines inc (liver) Long chain acyl carnitines inc (muscle) Transaminases (ASAT/ALAT) inc (serum) |
| Symptoms | cardiac arrhythmia, dysrhythmia cardiomegaly cardiomyopathy dystonia early death encephalopathy exercise intolerance failure to thrive hearing defect, deafness hypoglycemia intellectual disability/intellectual developmental disorder lactic acidosis leukoencephalopathy liver failure liver involvement or dysfunction metabolic acidosis microcephaly (<2 SD for age) MRS, brain, abnormalities muscle weakness myopathy nausea oligohydramnion (maternal) onset, childhood onset, infancy respiratory insufficiency rhabdomyolysis small for gestational age (SGA), intrauterine growth retardation (IUGR) strokelike episodes |