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MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
NDUFAF8
618776
OMIM = Online Mendelian Inheritance of Men
---
17q25.3
very rare
autosomal recessive
mutation in the NDUFAF8 gene
Laboratory findings    L-Lactic acid inc (serum)
Symptoms    anemia
    apnea
    developmental delay
    dysphagia
    early death
    EEG abnormalities [-]
    encephalopathy
    feeding difficulties, poor feeding
    hypotonia
    intrauterine growth retardation
    lactic acidosis
    metabolic acidosis
    onset, infancy
    optic atrophy
    respiratory insufficiency
    seizures