Further Delineation of Ribose-5-phosphate Isomerase Deficiency: Report of a Third Case.

Abstract

Ribose-5-phosphate isomerase deficiency, a disorder of the pentose phosphate shunt, was described in 1999. There are 2 previously reported cases of ribose-5-phosphate isomerase deficiency. Here, we describe the clinical course, diagnostic odyssey, and molecular findings in the third case of ribose-5-phosphate isomerase deficiency to further delineate the syndrome. Whole-exome sequencing demonstrated 2 mutations in the ribose-5-phosphate isomerase gene, RPIA, in a child with neonatal onset leukoencephalopathy and psychomotor delays. Urine polyols were elevated confirming deficiency of ribose-5-phosphate isomerase (RPI, EC. 5.3.1.6) and pathogenicity of the variants. Measurement of urine polyols should be considered in cases of early-onset white-matter disease.

• Authors: Susan Sklower Brooks, Sharon Anderson, Vikram Bhise, Christina Botti
• Journal: Journal of child neurology (J Child Neurol) Vol. 33 Issue 12 Pg. 784-787 (10 2018) ISSN: 1708-8283 [Electronic] United States
• PMID: 30088433 (Publication Type: Case Reports, Journal Article)

Chemical References

• CHMP1A protein, human
• Endosomal Sorting Complexes Required for Transport
• Vesicular Transport Proteins
• Aldose-Ketose Isomerases
• ribosephosphate isomerase

Topics

• Aldose-Ketose Isomerases (deficiency, genetics)
• Carbohydrate Metabolism, Inborn Errors (complications, diagnostic imaging, genetics)
• Child, Preschool
• Developmental Disabilities (etiology)
• Endosomal Sorting Complexes Required for Transport (genetics)
• Humans
• Leukoencephalopathies (complications, diagnostic imaging, genetics)
• Magnetic Resonance Imaging
• Male
• Mutation (genetics)
• Polyneuropathies (complications, diagnostic imaging, genetics)
• Vesicular Transport Proteins