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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
psychomotor regression
respiratory distress
small for gestational age (SGA), intrauterine growth retardation (IUGR)
laboratory finding
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