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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24; COXPD24

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24; COXPD24
616239
OMIM = Online Mendelian Inheritance of Men
444458
Probable asparagine--tRNA ligase, mitochondrial
11q14.1
G71.3
rare
autosomal recessive
mutation in the NARS2 gene
Laboratory findings    Creatine kinase inc (serum)
    L-Lactic acid inc (plasma)
Symptoms    cerebral atrophy
    dysarthria
    feeding difficulties, poor feeding
    hypotonia
    intellectual disability/intellectual developmental disorder
    lactic acidosis
    microcephaly (<2 SD for age)
    muscle atrophy
    muscle weakness
    myopathy
    nystagmus
    onset, infancy
    optic atrophy
    ptosis (drooping eyelid)
    renal dysfunction, renal defects
    seizures
    status epilepticus
    tubulopathy