The water-soluble micronutrient thiamine is required for normal tissue growth and development in humans. Thiamine is accumulated into cells through the activity of two cell surface thiamine transporters (hTHTR1 and hTHTR2), which are differentially targeted in polarized tissues. Mutational dysfunction of hTHTR1 is associated with the clinical condition of thiamine-responsive megaloblastic anemi...

Thiamine or Vitamin B1 is an essential cofactor for many metabolic processes in numerous tissues. Thiamine-Responsive Megaloblastic Anemia Syndrome is a genetic disorder affecting thiamine transportation with consequent bone marrow, pancreatic, neurological, and cardiac functional and developmental anomalies. There are limited reports of the cardiac manifestations of this syndrome. Here, we pre...

A 21-year-old woman presented with coma after 5 days of fever, gait ataxia, and somnolence. Brain MRI showed lesions in medial thalami, caudate heads, and periaqueductal region (figure). Hyperlactatemia was present; serum thiamine levels were normal. Thiamine IM 600 mg daily led to complete recovery within 3 days. Sequencing analysis of thiamine transporter 2 (THTR2) gene revealed a base deleti...

Introduction: The Thiamine Transporter gene SLC19A2 is the only gene known to be associated with TRMA.  This syndrome is a trial clinical characterized by megaloblastic anemia, nonautoimmune diabetes mellitus and sensory-neural hearing loss. Methods: Described here are three children from consanguineous Iranian families with thiamine – responsive megaloblastic anemia (TRMA) or Rogers' syndrome....

We have investigated the cellular pathology of the syndrome called thiamine-responsive megaloblastic anemia (TRMA) with diabetes and deafness. Cultured diploid fibroblasts were grown in thiamine-free medium and dialyzed serum. Normal fibroblasts survived indefinitely without supplemental thiamine, whereas patient cells died in 5-14 days (mean 9.5 days), and heterozygous cells survived for more ...

BACKGROUND Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as Rogers syndrome, is characterized by megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. Disturbances of the thiamine transport into the cells results from homozygous or compound heterozygous mutations in the SLC19A2 gene. CASE PRESENTATION We report a girl which presented with sensorineura...

Sir, The letter by Haack et al. (2014) provides important information confirming the role of the thiamine transporter hTHTR2 in Leigh syndrome and the beneficial effect of biotin and/or thiamine treatment for patients harbouring mutations in the gene encoding hTHTR2, SLC19A3. In recent years many new pathogenic mutations have been reported in SLC19A3 resulting in several age-related neurologica...

We have isolated a cDNA from human placenta, which, when expressed heterologously in mammalian cells, mediates the transport of the water-soluble vitamin thiamine. The cDNA codes for a protein of 497 amino acids containing 12 putative transmembrane domains. Northern blot analysis indicates that this transporter is widely expressed in human tissues. When expressed in HeLa cells, the cDNA induces...