go back

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 (MC3DN6)

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 (MC3DN6)
615453
OMIM = Online Mendelian Inheritance of Men
1460
Cytochrome c1, heme protein, mitochondrial
8q24.3
G71.3
very rare
autosomal recessive
mutation in the CYC1 gene
Laboratory findings    Ammonia normal/inc (blood)
    Ketone bodies (urine) inc (urine)
    L-Lactic acid inc (serum)
    Transaminases (ASAT/ALAT) normal/inc (serum)
Symptoms    coma
    encephalopathy
    hyperammonemia
    hyperglycemia
    ketosis, ketoacidosis
    lactic acidosis
    liver failure
    onset, childhood
    onset, infancy