Related Experiment Video
Updated: Jun 26, 2025

Label-Free Non-Linear Optics for the Study of Tubulin-Dependent Defects in Central Myelin
Published on: March 24, 2023
Thiamine-responsive megaloblastic anaemia
Vimal Mavila Veetil1, Divya Pachat1, K Nikitha1
1Aster MIMS, Kozhikode, Kerala, India.
Abstract:
We report a 26-year-old girl who was diagnosed with diabetes mellitus in her childhood and was treated with insulin. With a history of visual disturbances during her childhood and anaemia, which was partially evaluated; the possibility of syndromic diabetes was considered. Genetic analysis was done and revealed a mutation in the SLC19A2 gene, confirming the diagnosis of thiamine-responsive megaloblastic anaemia. She was supplemented with thiamine, which dramatically improved her haemoglobin levels and glucose control. However, her vision could not be salvaged as the rod-cone dystrophy is a permanent damage.
Related Concept Videos
Riboswitches
The aptamer has high specificity for a particular metabolite which allows riboswitches to specifically regulate...
Glucose Transporters
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:

