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Summary
COENZYME Q10 DEFICIENCY, PRIMARY, 3 (COQ10D3)
614652
OMIM = Online Medalian Inheritance of Men
255249
6q21
very rare
autosomal recessive
mutation in the PDSS2 gene
symptoms
ataxia
blindness, visual loss, visual impairment
early death
edema
encephalopathy
epilepsy
feeding difficulties, poor feeding
hypotonia
lactic acidosis
Leigh syndrome
nephrotic syndrome
onset, infancy
onset, neonatal
proteinuria
retinitis pigmentosa
seizures
laboratory finding
Lactic acid increasedserum
Albumin decreasedserum
Coenzyme Q10, Ubiquinone decreasedmuscle
Literature
Gohar NA,et al.Identification of insulin gene variants in neonatal diabetesJ Matern Fetal Neonatal Med3091035-10402017
Courtney R,et al.Novel homozygous likely-pathogenic intronic variant in INS causing permanent neonatal diabetes in siblingsJ Pediatr Endocrinol Metab2991089-10932016
Dimova R,et al.A family with permanent neonatal diabetes due to a novel mutation in INS geneDiabetes Res Clin Pract1082e28-302015