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MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3; MC1DN3

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3; MC1DN3
NDUFS7
618224
OMIM = Online Mendelian Inheritance of Men
2609
NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial
19p13.3
very rare
autosomal recessvie
mutation in the NDUFS7 gene
Laboratory findings    L-Lactic acid inc (serum)
    L-Lactic acid inc (cerebrospinal fluid)
Symptoms    ataxia
    dysarthria
    dystonia
    early death
    encephalopathy
    extrapyramidal signs
    hepatomegaly (large liver)
    hyperreflexia
    hypotonia
    lactic acidosis
    lethargy, drowsiness, apathy
    metabolic acidosis
    onset, infancy
    pyramidal signs
    respiratory insufficiency
    seizures