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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 COXPD4
610678
OMIM = Online Medalian Inheritance of Men
254925
16p11.2
rare
autosomal recessive
symptoms
encephalopathy
hyperammonemia
hypertonia, spasticity
hypotonia
lactic acidosis
leukodystrophy
liver involvement or dysfunction
metabolic acidosis
microcephaly (<2 SD for age)
nystagmus
onset, infancy
onset, neonatal
respiratory distress
small for gestational age (SGA), intrauterine growth retardation (IUGR)
laboratory finding
L-Lactic acid increasedserum
Ammonia increasedserum
Literature
Maekawa M,et al.Genotypic analysis of families with lactate dehydrogenase A (M) deficiency by selective DNA amplificationHum Genet88134-381991
Kanno T,et al.Lactate dehydrogenase M-subunit deficiency: a new type of hereditary exertional myopathyClin Chim Acta173189-981988