Ribose-5-Phosphate Isomerase Deficiency: Exploring One of the World’s Rarest Pediatric Metabolic Disorders

Author(s)	Moukthika Palla
Country	India
Abstract	Abstract: Ribose-5-Phosphate Isomerase (RPI) Deficiency is an exceptionally rare autosomal recessive genetic disorder caused by mutations in the RPIA gene (Gard, 2026). With only five known cases documented worldwide as of 2025, it is considered one of the rarest human diseases. The disorder impairs the pentose phosphate pathway, resulting in the toxic accumulation of polyols that cause progressive white matter damage in the brain(Huck et al., 2004). Affected children typically experience developmental delay, epilepsy, neurological regression, ataxia, spasticity, optic atrophy, and leukoencephalopathy (Knaap et al., 1999). This review synthesizes current knowledge on the biochemistry, clinical presentation, diagnostic challenges, and prospects of RPI deficiency, highlighting broader implications for rare disease research in pediatrics.
Keywords	neuro,
Field	Medical / Pharmacy
Published In	Volume 7, Issue 5, September-October 2026
Published On	2026-09-07
DOI	https://doi.org/10.63363/aijfr.2026.v07i05.7016

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