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ribose-5-P isomerase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ribose-5-P isomerase deficiency

MONDO:0012073

Also known as:ribose 5-phosphate isomerase deficiency

Overview

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.

GeneticsAutosomal recessive · RPIA (chr 2)

ResearchLimited published research (5 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Incoordination, Elevated circulating ribitol concentration, and Global developmental delay. 24 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Seizure, Polyneuropathy, Ataxia

Genetic Landscape

RPIA function has not been fully characterized.

Ribose-5-P isomerase deficiency is associated with mutations in the RPIA gene on chromosome 2.

Diagnosis

Genetic testing for RPIA is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for ribose-5-P isomerase deficiency has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for ribose-5-P isomerase deficiency.

5 publications have been identified in PubMed for ribose-5-P isomerase deficiency. Research spans Basic Science / Preclinical (60%), Diagnostic / Biomarker (20%), and Review / Meta-Analysis (20%).

Recent Publications

Qiao J (2025). [PMID: 39859324](https://pubmed.ncbi.nlm.nih.gov/39859324/). *International journal of molecular sciences*. [Review / Meta-Analysis]
Seregina TA (2025). [PMID: 41294827](https://pubmed.ncbi.nlm.nih.gov/41294827/). *Cells*. [Basic Science / Preclinical]
Hallier M (2024). [PMID: 38591898](https://pubmed.ncbi.nlm.nih.gov/38591898/). *mSphere*. [Basic Science / Preclinical]
Cardoso AS (2024). [PMID: 39061492](https://pubmed.ncbi.nlm.nih.gov/39061492/). *Animals : an open access journal from MDPI*. [Diagnostic / Biomarker]
Bhattacharjee P (2024). [PMID: 38778156](https://pubmed.ncbi.nlm.nih.gov/38778156/). *The EMBO journal*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 2:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608611

Orphanet

European rare disease database

Orphanet:440706

GARD

Genetic and Rare Diseases Info Center

GARD:17747

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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ribose-5-P isomerase deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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