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.
Keywords:
RPIA; leukodystrophy; pentose-phosphate pathway; ribose-5-phosphate isomerase deficiency.
MeSH terms
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Aldose-Ketose Isomerases / deficiency*
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Aldose-Ketose Isomerases / genetics
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Carbohydrate Metabolism, Inborn Errors / complications
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Carbohydrate Metabolism, Inborn Errors / diagnostic imaging
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Carbohydrate Metabolism, Inborn Errors / genetics*
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Child, Preschool
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Developmental Disabilities / etiology
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Endosomal Sorting Complexes Required for Transport / genetics
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Humans
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Leukoencephalopathies / complications
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Leukoencephalopathies / diagnostic imaging
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Leukoencephalopathies / genetics*
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Magnetic Resonance Imaging
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Male
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Mutation / genetics*
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Polyneuropathies / complications
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Polyneuropathies / diagnostic imaging
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Polyneuropathies / genetics*
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Vesicular Transport Proteins
Substances
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CHMP1A protein, human
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Endosomal Sorting Complexes Required for Transport
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Vesicular Transport Proteins
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Aldose-Ketose Isomerases
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ribosephosphate isomerase
Supplementary concepts
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Ribose 5-Phosphate Isomerase Deficiency