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Summary
COENZYME Q DEFICIENCY 1
COENZYME Q 10 DEFICIENCY UBIQUINONE DEFICIENCY
607426
OMIM = Online Medalian Inheritance of Men
255249
4q21.22-q21.23
rare
autosomal recessive
symptoms
anemia
ataxia
cardiomyopathy
cardiomyopathy, hypertrophic
cerebral atrophy
early death
encephalopathy
hearing defect, deafness
lactic acidosis
liver failure
mental retardation
muscle weakness
myopathy
onset, adulthood
onset, childhood
onset, infancy
onset, neonatal
proteinuria
renal failure, acute/chronic
retinitis pigmentosa
seizures
laboratory finding
Creatine kinase increasedserum
Dicarboxylic acids increasedurine
Protein increasedurine
Lactate increasedblood
Literature
Giuseppe Det al.Perinatal asphyxia in preterm neonates leads to serum changes in protein S-100 and neuron specific enolaseCurr Neurovasc Res62110-1162009
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