Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature.
Journal
Clinical dysmorphology
ISSN: 1473-5717
Titre abrégé: Clin Dysmorphol
Pays: England
ID NLM: 9207893
Informations de publication
Date de publication:
01 Jul 2022
01 Jul 2022
Historique:
pubmed:
2
2
2022
medline:
15
6
2022
entrez:
1
2
2022
Statut:
ppublish
Résumé
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 characterized by motor difficulties, distal weakness, and hoarseness (dysphonia). We identified a homozygous missense c.576G>C, p.(Gln192His) variant in the SLC25A19 gene in both families by whole-exome sequencing. Following genetic diagnosis, thiamine replacement therapy was started, and improvement was observed in all affected patients. We highlight the associated phenotypes of an SCL25A19 mutation leading to clinical features of THMD-4.
Identifiants
pubmed: 35102031
doi: 10.1097/MCD.0000000000000411
pii: 00019605-202207000-00003
pmc: PMC9188987
mid: NIHMS1768042
doi:
Substances chimiques
Mitochondrial Membrane Transport Proteins
0
SLC25A19 protein, human
0
Thiamine
X66NSO3N35
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
125-131Subventions
Organisme : NHGRI NIH HHS
ID : U24 HG008956
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG006504
Pays : United States
Informations de copyright
Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.
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