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Summary
COENZYME Q10 DEFICIENCY, PRIMARY, 8 (COQ10D8)
616733
OMIM = Online Medalian Inheritance of Men
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16p12.3
very rare
autosomal recessive
mutation in the COQ7 gene
symptoms
blindness, visual loss, visual impairment
cardiac involvement, cardiac defects
contractures, joints
developmental delay
feeding difficulties, poor feeding
growth retardation, poor growth
hearing defect, deafness
hypertension
hypotonia
intrauterine growth retardation
lactic acidosis
learning disability
lung hypoplasia
muscle weakness
oligohydramnion (maternal)
onset, fetus
onset, infancy
onset, neonatal
pulmonary hypertension
renal dysfunction, renal defects
respiratory distress
laboratory finding
Coenzyme Q10, Ubiquinone decreasedmuscle
Lactic acid3.00 mmol/lplasma
Lactic acid mmol/lcerebrospinal fluid
Fumaric acid100.001000.00 mmol/mol creatinineurine
Malic acid500.001500.00 mmol/mol creatinineurine
Literature
Garcia-Gonzalez MA,et al.A suppressor locus for MODY3-diabetesSci Rep60330872016
Kim SH,et al.Genetic modifiers of the age at diagnosis of diabetes (MODY3) in carriers of hepatocyte nuclear factor-1alpha mutations map to chromosomes 5p15, 9q22, and 14q24Diabetes5282182-21862003