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GTR Home > Conditions/Phenotypes > Deficiency of ribose-5-phosphate isomerase

Deficiency of ribose-5-phosphate isomerase

Synonyms
Ribose 5-Phosphate Isomerase Deficiency; Ribose-5-P isomerase deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Ribose 5-phosphate isomerase deficiency (RPIAD) is an autosomal recessive inborn error of metabolism of the pentose phosphate pathway that presents with leukoencephalopathy and peripheral neuropathy (Huck et al., 2004). [from OMIM]

Available tests

11 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (11 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: RPI, RPIAD, RPIA
    Summary: ribose 5-phosphate isomerase A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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