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Article

Severe peripheral neuropathy secondary to acute intermittent porphyria caused by a rare HMBS gene mutation: a case report.

BMC neurology - 1 May 2026

Li Yurun, Wang Danhua, Hong Daojun

Abstract excerpt

BACKGROUND: Peripheral neuropathy is caused by numerous etiologies, such as immune, infectious, neoplastic, metabolic, toxic, traumatic, vasculitic, hereditary factors, etc. Each etiological type has no special manifestation, and the misdiagnosis rate is relatively high. Acute intermittent porphyria (AIP) is a rare disease, often complicated by peripheral nerve injury, and can develop sequelae after delayed...

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Topics

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Share to AIP gene
Share to Hydroxymethylbilane Synthase
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Peripheral Nervous System Diseases

Share to Porphyria, Acute Intermittent

Source

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Identifiers

PMID: 42067825
DOI: 10.1186/s12883-026-04893-7
PMCID: PMC13281636

Genes

AIP
HMBS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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