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Summary

Disease	COENZYME Q10 DEFICIENCY, PRIMARY, 5 (COQ10D5)
OMIM	614654 OMIM = Online Medalian Inheritance of Men
Orphanet	319678
Gene locus	16q21
Summary	rare autosomal recessive mutation in the COQ9 gene

symptoms

anemia

bradycardia

cardiomyopathy

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

renal dysfunction, renal defects

respiratory insufficiency

seizures

tubulopathy

laboratory finding

Metabolite	min	max	Norm. min	Norm. max	unit	specimen	agegroup
MRI, brain, abnormalities -
L-Lactic acid	3.00				mmol/l	plasma
Alanine					+€mol/l	serum
Coenzyme Q10, Ubiquinone					decreased	muscle

Literature

Author	Co-Author	Title	society	book	volume	number	pages	Year
Marquard J,	et al.	Association of exercise-induced hyperinsulinaemic hypoglycaemia with MCT1-expressing insulinoma	Diabetologia		56	1	31-35	2013
Gohar NA,	et al.	Identification of insulin gene variants in neonatal diabetes	J Matern Fetal Neonatal Med		30	9	1035-1040	2017
Courtney R,	et al.	Novel homozygous likely-pathogenic intronic variant in INS causing permanent neonatal diabetes in siblings	J Pediatr Endocrinol Metab		29	9	1089-1093	2016
Shahar J,	Hamdy O	Medication and exercise interactions: considering and managing hypoglycemia risk	Diabetes Spectr		28	1	64-67	2015
Nardecchia F,	et al.	Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency	Eur J Pediatr		176	7	917-924	2017
Jasleen K,	et al.	Porphyria cutanea tarda with constrictive pericarditis: a rare association	Case Rep Dermatol Med		2012	0	972162	2012