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Article

Hartnup disease presenting as hereditary spastic paraplegia and severe peripheral neuropathy.

American journal of medical genetics. Part A - 1 Jan 2022

Wang Xianling, Li Xu-Ying, Piao Yueshan, Yuan Guobin, Lin Yicong, Chen Hai, Wang Zhanjun, Li Cunjiang, Wang Chaodong

Abstract excerpt

Hartnup disease cases were rare, and the genotype-phenotype correlation was not fully understood. Here we reported two unrelated young men diagnosed as Hartnup disease, who carried novel compound heterozygote mutations in the SLC6A19 gene and presented with new phenotypes. Other than intermittent encephalopathy and photosensitive rashes, they displayed symptoms and signs of spastic paraplegia and severe...

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PMID: 34459558
DOI: 10.1002/ajmg.a.62475

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