Living with Deficiency of ribose-5-phosphate isomerase
An extremely rare inherited condition that affects the brain's white matter and nerves, starting in childhood.
Understanding Deficiency of ribose-5-phosphate isomerase
It causes progressive leukoencephalopathy, a disease of the brain's white matter, and very high levels of ribitol and D-arabitol in the brain and body fluids. Signs include developmental delay, epilepsy, and slow neurological decline starting in childhood. GARD lists onset in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD's summary and list include:
- Delayed development overall
- Seizures (epilepsy)
- Poor coordination (ataxia)
- Difficulty speaking clearly
- Muscle stiffness (spasticity)
- Involuntary eye movements (nystagmus)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in RPIA are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
United Leukodystrophy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: United Leukodystrophy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with United Leukodystrophy Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the RPIA gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: deficiency of phosphopentosisomerase; deficiency of phosphoriboisomerase; ribose 5-phosphate isomerase deficiency; ribose-5-p isomerase deficiency
Patient organizations
- United Leukodystrophy FoundationLeukodystrophies · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Deficiency of ribose-5-phosphate isomerase.
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