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COENZYME Q10 DEFICIENCY, PRIMARY, 8 (COQ10D8)

COENZYME Q10 DEFICIENCY, PRIMARY, 8 (COQ10D8)
616733
OMIM = Online Mendelian Inheritance of Men
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5-demethoxyubiquinone hydroxylase, mitochondrial
16p12.3
very rare
autosomal recessive
mutation in the COQ7 gene
Laboratory findingsCoenzyme Q10, Ubiquinone decreased (muscle)
    Fumaric acid inc (urine)
    L-Lactic acid inc (cerebrospinal fluid)
    L-Lactic acid inc (plasma)
    Malic acid inc (urine)
Symptomslactic acidosis
    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
    learning disability
    muscle weakness
    oligohydramnion (maternal)
    onset, fetus
    onset, infancy
    onset, neonatal
    pulmonary hypertension
    pulmonary hypoplasia
    renal dysfunction, renal defects
    respiratory distress