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- Title
Further Delineation of Ribose-5-phosphate Isomerase Deficiency: Report of a Third Case.
- Authors
Brooks, Susan Sklower; Botti, Christina; Anderson, Sharon; Bhise, Vikram
- 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.
- Subjects
LEUKODYSTROPHY; RIBOSE phosphates; ISOMERASES; PENTOSE phosphate pathway; NUCLEOTIDE sequencing
- Publication
Journal of Child Neurology, 2018, Vol 33, Issue 12, p784
- ISSN
0883-0738
- Publication type
Article
- DOI
10.1177/0883073818789316