Visit Metagene.de!
Summary
COENZYME Q10 DEFICIENCY, PRIMARY, 7 (COQ10D7)
616276
OMIM = Online Medalian Inheritance of Men
457185
9q34.11
rare
autosomal recessive
mutation in the COQ4 gene
symptoms
bradycardia
cardiac involvement, cardiac defects
cardiomyopathy, hypertrophic
cerebellar atrophy or hypoplasia
early death
encephalopathy
epilepsy
hypotonia
intrauterine growth retardation
lactic acidosis
neuropathy
onset, neonatal
psychomotor retardation
respiratory insufficiency
scoliosis
seizures
swallowing difficulties
laboratory finding
Lactic acid increasedserum
2-Hydroxyglutaric acid (L) normal-increasedurine
EEG abnormalities -
Coenzyme Q10, Ubiquinone decreasedmuscle
MRI, brain, abnormalities -
Literature
Shammas C,et al.A report of 2 new cases of MODY2 and review of the literature: implications in the search for type 2 diabetes drugsMetabolism62111535-15422013
McDonald TJ,Ellard SMaturity onset diabetes of the young: identification and diagnosisAnn Clin Biochem505403-4152013