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., Cağlayan A. O.

Clinical dysmorphology, cilt.31, ss.125-131, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 31
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1097/mcd.0000000000000411
  • Dergi Adı: Clinical dysmorphology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.125-131
  • Anahtar Kelimeler: phenotypic expansion, whole-exome sequencing, PYROPHOSPHOKINASE DEFICIENCY, SLC25A19, MUTATIONS, SURVIVAL, DISORDER, DEFECTS
  • Erciyes Üniversitesi Adresli: Evet

Özet

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.