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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 COXPD21
615918
OMIM = Online Medalian Inheritance of Men
420733
1q21.2
rare
autosomal recessive
mutation in the TARS2 gene
symptoms
developmental delay
early death
hypotonia
lactic acidosis
liver involvement or dysfunction
onset, neonatal
laboratory finding
Lactic acid increasedserum
MRI, brain, abnormalities -
Literature
Zhang Y,et al.Two cases with generalized intracranial calcification due to hereditary folate malabsorption and literature reviewZhonghua Er Ke Za Zhi5412931-9352016