Ribose 5-phosphate 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.
Genes related to Ribose 5-phosphate Isomerase Deficiency
Clinical FeaturesTop most frequent phenotypes and symptoms related to Ribose 5-phosphate Isomerase Deficiency
- Global developmental delay
- Motor delay
- Peripheral neuropathy
- Optic atrophy
Incidence and onset information— Based on the latest data available there are 1 published cases of Ribose 5-phosphate Isomerase Deficiency in Europe.
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Ribose 5-phosphate Isomerase Deficiency Recommended genes panels
|Panel Name, Specifity and genes Tested/covered|
Ribose 5-fosfaat isomerase (RPIA) deficiency.
By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands.
Ataxia and differential diagnoses Panel.
By CeGaT GmbH in Germany.
FMR1, AARS2, ABHD12, UQCRQ, BTD, ATP7B, AUH, TWNK, PRKCG, PAX6, INPP5E, AMACR, OPA1, WFS1, GLB1, CC2D2A, ELOVL4, TMEM67, NPHP1, CEP290 , (...)
View the complete list with 184 more genes
By Fulgent Genetics Fulgent Genetics in United States.
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