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

Samur B. M., Gümüş G., CANPOLAT M., GÜMÜŞ H., PER H., ÇAĞLAYAN A. O.

Clinical Dysmorphology, vol.31, no.3, pp.125-131, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 31 Issue: 3
  • Publication Date: 2022
  • Doi Number: 10.1097/mcd.0000000000000411
  • Journal Name: Clinical Dysmorphology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Page Numbers: pp.125-131
  • Keywords: phenotypic expansion, whole-exome sequencing, PYROPHOSPHOKINASE DEFICIENCY, SLC25A19, MUTATIONS, SURVIVAL, DISORDER, DEFECTS
  • Kayseri University Affiliated: No


Copyright © 2022 Wolters Kluwer Health, Inc.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.