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COENZYME Q10 DEFICIENCY, PRIMARY, 5 (COQ10D5)

COENZYME Q10 DEFICIENCY, PRIMARY, 5 (COQ10D5)
614654
OMIM = Online Mendelian Inheritance of Men
319678
Ubiquinone biosynthesis protein COQ9, mitochondrial
16q21
E88.8
rare
autosomal recessive
mutation in the COQ9 gene
Laboratory findings    Alanine inc (serum)
    Coenzyme Q10, Ubiquinone dec (muscle)
    L-Lactic acid inc (plasma)
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)
    MRI, brain, abnormalities [-]
    onset, neonatal
    psychomotor regression
    renal dysfunction, renal defects
    respiratory insufficiency
    seizures
    tubulopathy