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Pediatrics General 178ecf95

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

A
Vitamin B12
B
Vitamin c
C
Vitamin B1
D
Folic acid
High-Yield Explanation
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.

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