MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5; MC5DN5 | |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATP5F1D TYPE | |
618120
OMIM = Online Mendelian Inheritance of Men | |
254913 | |
ATP synthase subunit delta, mitochondrial | |
19p13.3 |
|
rare autosomal recessive mutation in the ATP5F1D gene | |
Laboratory findings | 3-Methylglutaconic acid inc (urine) 3-Methylglutaric acid inc (urine) Ammonia inc (blood) D-Glucose dec (blood) L-Lactic acid inc (blood) |
Symptoms | cardiomyopathy encephalopathy hyperammonemia hypoglycemia lactic acidosis cardiomyopathy, dilated developmental delay exercise intolerance gait disturbance intrauterine growth retardation ketosis, ketoacidosis lethargy, drowsiness, apathy MRI, brain, abnormalities [-] muscle weakness onset, infancy onset, neonatal rhabdomyolysis seizures short stature speech development, delayed, abnormal |