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Summary
MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE) (MTDPS16)
618528
OMIM = Online Medalian Inheritance of Men
17q23.3
very rare
autosomal recessive
mutation in the POLG2 gene
symptoms
cholestasis
Coagulopathy/Coagulation factors
early death
feeding difficulties, poor feeding
hepatomegaly (large liver)
jaundice
lactic acidosis
liver failure
liver involvement or dysfunction
metabolic acidosis
onset, infancy
onset, neonatal
laboratory finding
L-Lactic acid mmol/lblood
Bilirubin +€mol/lserum
Albumin g/lserum
Literature
Desbats MA,et al.Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiencyJ Inherit Metab Dis381145-1562015
Daly A,et al.Dietary practices in propionic acidemia: A European surveyMol Genet Metab Rep13083-892017
Heidary G,et al.Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literatureJ Neuroophthalmol34139-432014