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Article

Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature.

Clinical dysmorphology - 1 Jul 2022

Samur Bahadir M, Gümüş Gülsüm, Canpolat Mehmet, Gümüş Hakan, Per Hüseyin, Cağlayan Ahmet Okay

Abstract excerpt

Thiamine metabolism dysfunction syndrome-4 (THMD-4) is an autosomal recessive inherited rare disease (OMIM #613710) characterized by febrile illness associated episodic encephalopathy, leading to transient neurological dysfunction and progressive polyneuropathy. We report three patients from two different families with normal development, episodic encephalopathy, gait disorder, progressive chronic polyneuropathy...

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Identifiers

PMID: 35102031
DOI: 10.1097/MCD.0000000000000411
PMCID: PMC9188987

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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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