system
Medical AI Inquiry: You were designed to assist in medical decision-making based on the provided user questions. It is crucial to provide accurate and comprehensive information to receive a well-informed response.
user
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
assistant
The correct answer is  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.