Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA.

Abstract

Ribose 5-phosphate isomerase deficiency is a rare genetic leukoencephalopathy caused by pathogenic sequence variants in RPIA, that encodes ribose 5-phosphate isomerase, an enzyme in the pentose phosphate pathway. Till date, only three individuals with ribose 5-phosphate isomerase deficiency have been described in literature. We report on a subject with RPIA associated progressive leukoencephalopathy with elevated urine arabitol and ribitol levels and a novel missense variant c.770T > C p.(Ile257Thr) in exon 8 of RPIA. We also compare the phenotypes of all the four subjects. Our report confirms the phenotype and the genetic cause of this condition.

• Authors: Parneet Kaur, Mirjam M C Wamelink, Marjo S van der Knaap, Katta Mohan Girisha, Anju Shukla
• Journal: European journal of medical genetics (Eur J Med Genet) Vol. 62 Issue 8 Pg. 103708 (Aug 2019) ISSN: 1878-0849 [Electronic] Netherlands
• PMID: 31247379 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2019 Elsevier Masson SAS. All rights reserved.

Chemical References

• Sugar Alcohols
• Ribitol
• Aldose-Ketose Isomerases
• ribosephosphate isomerase
• arabitol

Topics

• Aldose-Ketose Isomerases (deficiency, genetics)
• Alleles
• Carbohydrate Metabolism, Inborn Errors (drug therapy, genetics, pathology)
• Humans
• Leukoencephalopathies (drug therapy, genetics, pathology)
• Male
• Pentose Phosphate Pathway (genetics)
• Polyneuropathies (drug therapy, genetics, pathology)
• Ribitol (administration & dosage)
• Sugar Alcohols (administration & dosage)