Ribose-5-P isomerase deficiency

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Ribose-5-P isomerase deficiency

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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Advocacy Organizations

Aicardi-Goutieres Syndrome Advocacy Association

AGSAA is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with Aicardi-Goutières Syndrome and those yet to be diagnosed. Everything we do reflects a sense of urgency to rescue patient potential and preserve quality of life through accelerating research and providing timely emotional and educational support alongside evolving clinical care recommendations to affected families.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.