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Paediatric

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Metabolic Diseases

Question
2 out of 9
 

Treatment of multiple carboxylase deficiency (LQ)



A Biotin
B Pyridoxine

C Thiamine
D Folic acid

Ans. A

Biotin

Pathogenesis of multiple carboxylase deficiency

a. Deficiency of either holocarboxylase synthase or biotinidase impaires biotin metabolism.

b. Biotin is a cofactor for various carboxylases in the body -

c. Impaired metabolism of biotin results in multiple carboxylase deficiency.

d. So, for the treatment of multiple carboxylase deficiency, biotin should be given.

Metabolic Diseases Flashcard List

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