Biochemistry Annie is a 22 year old woman whose brother died at 19 due to a stro
ID: 216533 • Letter: B
Question
Biochemistry
Annie is a 22 year old woman whose brother died at 19 due to a stroke. She is in the clinic since she wants to rule out any inherited disorders. She is very near-sighted and did poorly in school and was in the special education program. She is tall, slender, and has long skinny fingers. Her bloodwork came back normal for clotting agents and anemia, and her serum homocysteine level was 256.91 ?mol/L (normal range, 4.60–12.44). A fibroblast biopsy shows no detectable cystathionine ß synthase enzyme activity. Annie is started on supplementation of oral pyridoxine (400 mg/day), and her serum homocysteine level was near normal 29.43 ?mol/L (normal range, 4.60–12.44) after one month. She says she feels less moody, and her response to pyridoxine therapy means she does not need to change her diet.
Based on the symptoms presented, and response to treatment, which enzymes/vitamins appear to be deficient or not functioning properly? Why was the treatment successful? Explain your reasoning.
Explanation / Answer
Cystathionine Beta Synthase (CBS) is an enzyme that converts homocysteine into cystathionine and is very crucial to homocysteine utilization. Vit B6 aids conversion of Homocysteine to Cystathionine (its a cofactor). Pyridoxine is a Vitamin formulation and hence was helpful. Yes, the treatment managed the level of homocysteine but it did not cure the disease as this is a genetic disease. So we should use the words " the treatment managed to disease". It brought down the homocysteine levels.
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