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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 COXPD20
VARS2
615917
OMIM = Online Medalian Inheritance of Men
420728
6p21.33
very rare (5 patients)
autosomal recessive
mutation in the VARS2 gene
symptoms
abnormal movement
ataxia
cardiomyopathy
developmental delay
dysmorphism
encephalopathy
epilepsy
failure to thrive
hypogonadism
hypotonia
lactic acidosis
mental retardation
microcephaly (<2 SD for age)
nystagmus
onset, infancy
ophthalmoplegia
seizures
short stature
speech development, delayed, abnormal
laboratory finding
L-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
Tomatsu S,et al.Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndromeDrug Des Devel Ther901937-19532015
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
Hendriksz CJ,et al.International guidelines for the management and treatment of Morquio A syndromeAm J Med Genet A167111-252015
Kronn D1,Goldman IDHereditary Folate MalabsorptionGeneReviews-« InternetGeneReviews-« Internet002017