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MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 (MC1DN18)

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 (MC1DN18)
NDUFAF3
618240
OMIM = Online Mendelian Inheritance of Men
2609
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3
3p21.31
very rare
autosomal recessive
mutation in the NDUFAF3 gene
Laboratory findings    L-Lactic acid inc (serum)
    L-Lactic acid inc (cerebrospinal fluid)
Symptoms    abnormal movement
    developmental delay
    early death
    feeding difficulties, poor feeding
    hydronephrosis
    hyperreflexia
    hypertonia, spasticity
    hypotonia
    lactic acidosis
    macrocephaly (large calvaria, >2 SD for age)
    myoclonus
    onset, neonatal
    optic atrophy
    respiratory insufficiency
    seizures