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Summary
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 (MC3DN6)
615453
OMIM = Online Medalian Inheritance of Men
1460
8q24.3
very rare
autosomal recessive
mutation in the CYC1 gene
symptoms
coma
encephalopathy
hyperammonemia
hyperglycemia
ketosis, ketoacidosis
lactic acidosis
liver failure
onset, childhood
onset, infancy
laboratory finding
L-Lactic acid mmol/lserum
Ammonia +€mol/lblood
Transaminases U/lserum
Ketone bodies +++urine
Literature
Blackburn PR,et al.Maple syrup urine disease: mechanisms and managementAppl Clin Genet10057-662017
Baresova V,et al.Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiencyHum Mol Genet2171534-15432012