A autosomal recessive disorder caused by mutation in SLC19A2 gene and characterized by megaloblastic anemia, diabetes mellitus and sensorineural hearing loss. This child responds to which nutrient
Correct Answer: Vitamin B1
Description: This is Thiamine Responsive Megaloblastic syndrome:
It occurs due to mutation of SLC19A2 gene, encoding thiamine transporter protein, Leading to abnormal thiamine transportation.
Clinical features:
Megaloblastic anemia
Diabetes mellitus
Sensorineural hearing loss.
Category:
Pediatrics
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