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

Autor:	Helvaci, Burcak Cavnar, Saat, Hanife, Hepsen, Sema, Helvaci, Özant, Cakal, Erman
Předmět:	MEMBRANE transport proteins GLYCOSYLATED hemoglobin GLYCEMIC control OPTICAL coherence tomography SENSORINEURAL hearing loss VITAMIN B1 CONSANGUINITY ORAL drug administration GENETIC variation ELECTROMYOGRAPHY POLYNEUROPATHIES MACROCYTIC anemia GENETIC mutation DIABETES GENETIC testing LIPOIC acid
Zdroj:	Endocrinology Research & Practice; Oct2024, Vol. 28 Issue 4, p236-239, 4p
Abstrakt:	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 highaffinity 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. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
Externí odkaz:	Zobrazit plný text záznamu