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MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 (MC1DN4)

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 (MC1DN4)
NDUFV1
618225
OMIM = Online Mendelian Inheritance of Men
2609
NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial
11q13.2
G71.3
very rare
autosomal recessvie
mutation in the NDUFV1 gene
Laboratory findings    L-Lactic acid inc (serum)
    L-Lactic acid inc (cerebrospinal fluid)
Symptoms    apnea
    ataxia
    cerebral atrophy
    developmental delay
    early death
    hypertonia, spasticity
    hypotonia
    lactic acidosis
    lethargy, drowsiness, apathy
    metabolic acidosis
    onset, childhood
    onset, infancy
    ophthalmoplegia
    ptosis (drooping eyelid)
    seizures
    vomiting