Rare case of ribose 5 phosphate isomerase deficiency with slowly progressive leukoencephalopathy

MeSH terms

• Adolescent
• Aldose-Ketose Isomerases / deficiency*
• Aldose-Ketose Isomerases / genetics
• Carbohydrate Metabolism, Inborn Errors / complications*
• Carbohydrate Metabolism, Inborn Errors / diagnosis*
• Carbohydrate Metabolism, Inborn Errors / genetics
• Carbohydrate Metabolism, Inborn Errors / therapy
• Diagnosis, Differential
• Disease Progression
• Humans
• Leukoencephalopathies / complications*
• Leukoencephalopathies / diagnosis*
• Leukoencephalopathies / genetics
• Leukoencephalopathies / therapy
• Male
• Polyneuropathies / complications*
• Polyneuropathies / diagnosis*
• Polyneuropathies / genetics
• Polyneuropathies / therapy