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Article

Neurodevelopmental disorder in a patient with HMBS and SCN3A variants-A possibly blended phenotype further delineating autosomal recessive HMBS related disease.

American journal of medical genetics. Part A - 1 Aug 2024

M Kłaniewska, M Rydzanicz, J Bladowska, A Borys-Iwanicka, K Iwanicka-Pronicka, R Wasilewski, E Odnoczko, A Zubkiewicz-Kucharska, R Smigiel, R Ploski

Abstract excerpt

Monoallelic pathogenic HMBS variants are a well-established cause of acute intermittent porphyria (AIP), whereas biallelic pathogenic variants may cause HMBS-related leukoencephalopathy which remains a poorly characterized disorder. We describe an 8-year-old girl with hypotonia, hearing impairment, horizontal nystagmus, bilateral strabismus, impaired visual acuity, and optic nerve atrophy. She had no epilepsy but...

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Identifiers

PMID: 38568055
DOI: 10.1002/ajmg.a.63617

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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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