| COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41 (COXPD41) | |
| GATB | |
|
618838
OMIM = Online Mendelian Inheritance of Men | |
very rare autosomal recessive mutation in the GATB gene | |
| Laboratory findings | D-Glucose dec (serum) L-Lactic acid inc (blood) |
| Symptoms | anemia ascites cardiomyopathy cardiomyopathy, hypertrophic early death EEG abnormalities [-] heart failure, cardiac failure hydrops fetalis hypoglycemia intrauterine growth retardation lactic acidosis microcephaly (<2 SD for age) onset, fetus onset, neonatal pericardial effusion prematurity, premature delivery pulmonary hypertension respiratory insufficiency |