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Summary
COENZYME Q10 DEFICIENCY, PRIMARY, ? (COQ10D?)
C-METHYLTRANSFERASE DEFICIENCY (COQ5)
616359
OMIM = Online Medalian Inheritance of Men
12q24.31
very rare (3 patients)
new disease
symptoms
ataxia
cognitive impairment
encephalopathy
onset, childhood
onset, infancy
seizures
laboratory finding
Coenzyme Q10, Ubiquinone decreasedmuscle
Literature
Casey JP,et al.Identification of a mutation in LARS as a novel cause of infantile hepatopathyMol Genet Metab1063351-3582012
Garcia-Gonzalez MA,et al.Erratum: A suppressor locus for MODY3-diabetesSci Rep. 2016 Oct 216:35697.60356972016
Wang D,De Vivo DPyruvate Carboxylase DeficiencyGeneReviews-« Internet001993-20172009