Ribose 5-phosphate Isomerase Deficiency

Description

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Ribose 5-phosphate Isomerase Deficiency

  • Seizures
  • Global developmental delay
  • Ataxia
  • Motor delay
  • Spasticity
  • Peripheral neuropathy
  • Optic atrophy
  • Encephalopathy
  • Cirrhosis
  • Polyneuropathy
And another 14 symptoms. If you need more information about this disease we can help you.
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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.

RPIA
Specificity
100 %
Genes
100 %
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
Specificity
1 %
Genes
100 %
RPIA.

By Fulgent Genetics Fulgent Genetics in United States.

RPIA
Specificity
100 %
Genes
100 %


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