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Summary
COENZYME Q10 DEFICIENCY, PRIMARY, 5 (COQ10D5)
614654
OMIM = Online Medalian Inheritance of Men
319678
16q21
rare
autosomal recessive
mutation in the COQ9 gene
symptoms
bradycardia
cerebellar atrophy or hypoplasia
cerebral atrophy
developmental delay
dystonia
early death
encephalopathy
epilepsy
feeding difficulties, poor feeding
hyperreflexia
hypothermia
hypotonia
intrauterine growth retardation
lactic acidosis
microcephaly (<2 SD for age)
onset, neonatal
psychomotor regression
respiratory insufficiency
seizures
tubulopathy
laboratory finding
MRI, brain, abnormalities -
Lactic acid increasedserum
Alanine increasedserum
Coenzyme Q10, Ubiquinone decreasedmuscle
Literature
Marquard J,et al.Association of exercise-induced hyperinsulinaemic hypoglycaemia with MCT1-expressing insulinomaDiabetologia56131-352013
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
Shahar J,Hamdy OMedication and exercise interactions: considering and managing hypoglycemia riskDiabetes Spectr28164-672015
Nardecchia F,et al.Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiencyEur J Pediatr1767917-9242017