ribose-5-P isomerase deficiency
Findings
No curated finding names ribose-5-P isomerase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.
Definition from the Mondo Disease Ontology (MONDO:0012073), read 2026-09-29. CC BY 4.0.
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Elevated circulating ribitol concentrationHPOHP:0025550
- 20 of 20 reported patients
- IncoordinationHPOHP:0002311
- 1 of 1 reported patient
- Decreased CSF erythritol concentrationHPOHP:0410056
- Decreased level of erythritol in urineHPOHP:0410055
- Elevated circulating D-threitol concentrationHPOHP:0410057
- Increased CSF D-threitol concentrationHPOHP:0410058
- Increased CSF ribitol concentrationHPOHP:0410071
- Increased CSF ribose concentrationHPOHP:0410073
Show the remaining 1
- Increased level of xylitol in urineHPOHP:0410074
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RPIAHGNC:10297
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2017
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021