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MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5; MC5DN5

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)
Symptomscardiomyopathy
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