| MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2; MC5DN2 | |
| ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL, NEONATAL, DUE TO ATP SYNTHASE DEFICIENCY; TMEM70 | |
|
614052
OMIM = Online Mendelian Inheritance of Men | |
|
1194 | |
| Transmembrane protein 70, mitochondrial | |
| rare autosomal recessive mutation in the TMEM70 gene | |
| Laboratory findings | 3-Methylglutaconic acid inc (urine) Alanine inc (plasma) Ammonia inc (blood) Creatine kinase inc (serum) Ketone bodies (urine) normal/inc (urine) L-Lactic acid inc (blood) |
| Symptoms | apnea ataxia basal ganglia, changes, lesions, calcifications (MRI, CT) cardiac arrhythmia, dysrhythmia cardiomyopathy cardiomyopathy, hypertrophic cataract cerebellar atrophy or hypoplasia cryptorchism developmental delay dysmorphism early death encephalopathy failure to thrive heart failure, cardiac failure hepatomegaly (large liver) hyperammonemia hypospadia hypotonia inguinal hernia intrauterine growth retardation lactic acidosis leukoencephalopathy liver involvement or dysfunction metabolic acidosis microcephaly (<2 SD for age) MRI, brain, abnormalities [-] oligohydramnion (maternal) onset, childhood onset, fetus onset, infancy onset, neonatal psychomotor retardation pulmonary hypertension respiratory insufficiency seizures small for gestational age (SGA), intrauterine growth retardation (IUGR) tubulopathy umbilical hernia Wolf-Parkinson-White syndrome |