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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 COXPD13
6149312
OMIM = Online Medalian Inheritance of Men
319514
2p16.1
rare
autosomal recessive
mutation in the PNPT1 gene
symptoms
abnormal movement
developmental delay
dyskinesia
dystonia
encephalopathy
growth retardation, poor growth
hearing defect, deafness
hyporeflexia
hypotonia
lactic acidosis
muscle atrophy
muscle weakness
myopathy
nystagmus
onset, infancy
optic atrophy
speech development, delayed, abnormal
laboratory finding
Lactic acid3.00 mmol/lplasma
Lactic acid mmol/lcerebrospinal fluid
Literature
Manoli I,Sloan JL, Venditti CPIsolated Methylmalonic AcidemiaGeneReviews-«GeneReviews-«002016
Potter SL,et al.Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemiaPediatr Blood Cancer6452017
Furuichi T,et al.Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseasesJ Med Genet468562-5682009
Cylwik B,et al.Congenital disorders of glycosylation. Part II. Defects of protein O-glycosylationActa Biochim Pol603361-3682013
Dejkhamron P,et al.Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosisJ Pediatr Endocrinol Metab293373-3782016