Question

A young boy with thin built and long fingers presents with diminished vision. On examination subluxation of lens is observed and cystathione synthase deficiency was detected. Which aminoacid should the patient be supplied with?

• A. Serine
• B. Tyrosine
• C. Methionine
• D. Cysteine

Answer 1

The Correct Option is D

The condition described is indicative of Homocystinuria, a genetic disorder caused by a deficiency in the enzyme cystathionine β-synthase. This enzyme is crucial in the metabolism of the amino acid methionine to cysteine. In Homocystinuria, due to the deficiency of cystathionine β-synthase, there is a buildup of homocysteine and a deficit of cysteine. Hence, the treatment focus is on supplementing the body with cysteine, which is an essential amino acid that the patient cannot synthesize adequately due to the enzyme deficiency. Thus, the amino acid that should be supplied to the patient is:

Cysteine

Providing cysteine will help alleviate symptoms and manage the condition by compensating for the disrupted metabolic pathway.