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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 COXPD20
615917
OMIM = Online Medalian Inheritance of Men
420728
6p21.33
rare
autosomal recessive
mutation in the VARS2 gene
symptoms
abnormal movement
ataxia
cardiomyopathy
developmental delay
dysmorphism
encephalopathy
epilepsy
hypogonadism
hypotonia
lactic acidosis
mental retardation
microcephaly (<2 SD for age)
onset, infancy
ophthalmoplegia
seizures
short stature
speech development, delayed, abnormal
laboratory finding
Lactic acid3.00 mmol/lplasma
MRI, brain, abnormalities -
Literature
Wang Q,et al.The first Chinese case report of hereditary folate malabsorption with a novel mutation on SLC46A1Brain Dev371163-1672015
Ahmad I,et al.Hereditary folate malabsorption with extensive intracranial calcificationIndian Pediatr52167-682015
Zhang Y,et al.Two cases with generalized intracranial calcification due to hereditary folate malabsorption and literature reviewZhonghua Er Ke Za Zhi5412931-9352016
Kronn D1,Goldman IDHereditary Folate MalabsorptionGeneReviews-« InternetGeneReviews-« Internet002017