Novel Homozygous Variant in the SLC19A2 Gene Causing Thiamine Responsive Megaloblastic Anemia Syndrome: A Disease to Be Considered in Diabetes Clinics

Helvaci B. C., Saat H., Hepsen S., HELVACI Ö., Cakal E.

ENDOCRINOLOGY RESEARCH AND PRACTICE, sa.4, ss.236-239, 2024 (ESCI) identifier

  • Yayın Türü: Makale / Tam Makale
  • Basım Tarihi: 2024
  • Doi Numarası: 10.5152/erp.2024.473
  • Dergi Adı: ENDOCRINOLOGY RESEARCH AND PRACTICE
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.236-239
  • Gazi Üniversitesi Adresli: Evet

Özet

Thiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare syndrome with an autosomal recessive manner that develops due to a mutation in the SLC19A2gene. SLC19A2 encodes the high- affinity thiamine transport protein 1 (THTR1), which mediates the active transport of thiamine. The classical triad consists of megaloblastic anemia, sensorineural hearing loss, and non-autoimmune diabetes. Apart from this, ophthalmological, cardiological, and neurological findings have also been described. We present a case of thiamine-responsive megaloblastic anemia (TRMA) syndrome diagnosed in an adult with a novel mutation in the SLC19A2 gene. This 38-year-old female patient, a third child from a consanguineous marriage, presented with the classic TRMA triad: sensorineural deafness, megaloblastic anemia, and autoimmune diabetes. Starting thiamine treatment is essential in reducing the devel opmen t/pro gress ion of some complications; it is crucial to increase awareness of the disease and make an early diagnosis.