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Shirakawa, Shunichi; Murakami, Tatufumi; Hashiguchi, Akihiro; Takashima, Hiroshi; Hasegawa, Hiroshi; Ichida, Kimiyoshi; Sunada, Yoshihide
Internal Medicine, 2022Journal Article
The PRPS1 gene encodes phosphoribosyl pyrophosphate synthetase 1 (PRS-1). The phenotypes associated with PRPS1 mutations include DFN2 (mild PRS-1 deficiency), CMTX5 (moderate PRS-1 deficiency), Arts syndrome (severe PRS-1 deficiency), and PRS-1 superactivity1. X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is a very rare hereditary neuropathy characterized by deafness, optic atrophy, and polyneuropathy. We herein report a Japanese patient with CMTX5 who had a novel hemizygous mutation c.82 G>C in PRPS1. Despite showing a typical clinical picture, the decrease in enzyme activity measured in the patient's erythrocytes was milder than in previously reported cases.
