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Summary
COENZYME Q10 DEFICIENCY, PRIMARY, 1 (COQ10D1)
COENZYME Q 10 DEFICIENCY UBIQUINONE DEFICIENCY
607426
OMIM = Online Medalian Inheritance of Men
255249
4q21.22-q21.23
rare
autosomal recessive
mutation in the COQ2 gene
symptoms
anemia
ataxia
cardiomyopathy
cardiomyopathy, hypertrophic
cerebellar atrophy or hypoplasia
cerebral atrophy
developmental regression
early death
encephalopathy
epilepsy
hearing defect, deafness
lactic acidosis
liver failure
mental retardation
muscle weakness
myopathy
nephrotic syndrome
nystagmus
onset, adulthood
onset, childhood
onset, infancy
onset, neonatal
pancytopenia
proteinuria
psychomotor regression
renal failure, acute/chronic
retinitis pigmentosa
seizures
strokelike episodes
laboratory finding
Creatine kinase increasedserum
Dicarboxylic acids increasedurine
Protein increasedurine
Lactic acid increasedblood
EEG abnormalities -
Myoglobin normal-increasedurine
Coenzyme Q10, Ubiquinone decreasedmuscle
Literature
Giuseppe Det al.Perinatal asphyxia in preterm neonates leads to serum changes in protein S-100 and neuron specific enolaseCurr Neurovasc Res62110-1162009
Polak M,et al.Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study GroupDiabetes5741115-11192008
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
Huemer M,et al.Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelinesJ Inherit Metab Dis3861007-10192015
Babenko AP,et al.Activating mutations in the ABCC8 gene in neonatal diabetes mellitusN Engl J Med3555456-4662006
Gazzolo Det al.Diagnostic accuracy of S100B urinary testing at birth in full-term asphyxiated newborns to predict neonatal deathPLoS One4242982009
Gross Oet al.Stem cell therapy for Alport syndrome: the hope beyond the hypeNephrol Dial Transplant243731-7342008
Fawzi AAet al.Retinal Findings in Patients with Alport Syndrome: Expanding the Clinical SpectrumBr J Ophthalmol002009