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Summary
TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (TPID)
615512
OMIM = Online Medalian Inheritance of Men
868
12p13.31
  • supportive/symptomatic therapy
rare
autosomal recessive
mutation in the TPI1 gene
symptoms
abnormal movement
anemia
cardiomyopathy
dystonia
early death
hemolysis
hypertonia, spasticity
hyporeflexia
hypotonia
jaundice
muscle atrophy
muscle weakness
onset, infancy
onset, neonatal
peripheral neuropathy
progressive neurologic defect
respiratory insufficiency
tremor or twitching
laboratory finding
Dihydroxyacetone-phosphate increasederythrocytes
Triosephosphate isomerase decreased activityerythrocytes
Hemoglobine decreasedblood
Literature
Nicolaides PLeonard J, Surtees RNeurological outcome of methylmalonic acidemiaArch Dis Child780508-5121998
Wolf Bet al.Delayed-onset profound biotinidase deficiencyJ Pediatr1320362-3651998
Sasaki Met al.3-Hydroxyisobutyric aciduria in two brothersPediatr Neurol180253-2551998
Borgwardt L,Lund AM, Dali CI.Alpha-mannosidosis - a review of genetic, clinical findings and options of treatmentPediatr Endocrinol Rev Suppl 100185-1912014
Govender R,Mubaiwa LAlpha-mannosidosis: a report of 2 siblings and review of the literatureJ Child Neurol291131-1342014
Sweetman LWilliams JCBranched chain organic aciduriasThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101387-14491995
Traeger ECRapin IThe clinical course of Canavan diseasePediatr Neurol180207-2121998