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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43 (COXPD43)

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43 (COXPD43)
TIMM22
618851
OMIM = Online Mendelian Inheritance of Men
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17p13.3
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very rare
autosomal recessive
mutation in the translocase of inner mitochondrial membrane gene TIMM22
Laboratory findingsL-Lactic acid inc (serum)
    Creatine kinase inc (serum)
Symptoms    feeding difficulties, poor feeding
    gastroesophageal reflux
    hypotonia
    intrauterine growth retardation
    lactic acidosis
    myelination, incomplete, hypomyelination
    myopathy
    onset, fetus
    onset, neonatal