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A Classical Phenotype of Fabry Disease with Novel Mutation Found by Kidney Biopsy, A Case Report.

Iranian journal of kidney diseases - 1 Nov 2023

Matsumoto Keiichiro, Ishii Marina, Mizuta Masato, Nakamura Megumi, Matsumoto Ryoko, Ikeda Yuki, Yamasaki Masatora, Fukuda Makoto, Miyazono Motoaki

Abstract excerpt

Fabry disease (FD) is a multi-organ disorder caused by a deficiency of alpha-galactosidase (α-GLA) or reduced activity of the enzyme due to mutations in the GLA gene on the X chromosome, making it an X-linked hereditary disease. A 37-year-old man previously diagnosed with sudden deafness and cardiac hypertrophy was referred to our department after an abnormal urine finding during a public health checkup. A renal...

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PMID: 38043112

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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