WBR0984
| Author | [[PageAuthor::Rim Halaby, M.D. [1]]] |
|---|---|
| Exam Type | ExamType::USMLE Step 1 |
| Main Category | MainCategory::Biochemistry |
| Sub Category | SubCategory::General Principles |
| Prompt | [[Prompt::A 2 year old boy is evaluated for mental retardation and developmental delay. Metabolic studies reveal mild acidosis and elevated levels of leucine, isoleucine and valine. Laboratory tests results following few months of dietary restriction of proteins and vitamin supplementation reveal an improvement in the levels of these amino acids in addition to the absence of acidosis. Supplementation with which of the following vitamins most likely improved the condition of this patient?]] |
| Answer A | AnswerA::Pyridoxine |
| Answer A Explanation | [[AnswerAExp::Supplementation with thiamine (vitamin B1) improves the condition of a thiamine responsive maple syrup disease. Pyridoxine (vitamin B6) has no role in increasing the activity of branched-chain alpha ketodehydrogenase.]] |
| Answer B | AnswerB::Biotin |
| Answer B Explanation | [[AnswerBExp::Supplementation with thiamine (vitamin B1) improves the condition of a thiamine responsive maple syrup disease. Biotin (vitamin B7) has no role in increasing the activity of branched-chain alpha ketodehydrogenase.]] |
| Answer C | AnswerC::Niacin |
| Answer C Explanation | [[AnswerCExp::Supplementation with thiamine (vitamin B1) improves the condition of a thiamine responsive maple syrup disease. Niacin (vitamin B3) has no role in increasing the activity of branched-chain alpha ketodehydrogenase.]] |
| Answer D | AnswerD::Folic acid |
| Answer D Explanation | [[AnswerDExp::Supplementation with thiamine (vitamin B1) improves the condition of a thiamine responsive maple syrup disease. Folic acid (vitamin B9) has no role in increasing the activity of branched-chain alpha ketodehydrogenase.]] |
| Answer E | AnswerE::Thiamine |
| Answer E Explanation | [[AnswerEExp::Supplementation with thiamine (vitamin B1) improves the condition of a thiamine responsive maple syrup disease. Thiamine increases the activity of branched-chain alpha ketodehydrogenase.]] |
| Right Answer | RightAnswer::E |
| Explanation | [[Explanation::Maple syrup urine disease is an autosomal recessive disease characterized by the deficiency in branched-chain alpha ketodehydrogenase. Deficiency of this enzyme leads to the elevation of alpha keto acids in the blood due to the impaired breakdown of the branched amino acids isoleucine, leucine and lysine. Maple syrup disease may have a spectrum of clinical presentations that subsequently lead to neurological defects, mental retardation and death if left untreated. There are several types of maple syrup disease: severe neonatal form, mild thiamine non responsive and mild thiamine responsive. In the latter form, thiamine supplementation increases the activity of the enzyme branched-chain alpha ketodehydrogenase. The mild thiamine responsive form of this disease can be treated with protein restriction and thiamine supplementation.
Educational objective: Maple syrup urine disease is an autosomal recessive disease characterized by the deficiency in branched-chain alpha ketodehydrogenase leading to the accumulation of the branched amino acids leucine, isoleucine and lysine in the blood. The mild thiamine responsive form of this disease can be treated with protein restriction and thiamine supplementation. Reference:
First aid for USMLE step 1, 2013. Page 109. |
| Approved | Approved::No |
| Keyword | WBRKeyword::Maple syrup disease, WBRKeyword::vitamin B1, WBRKeyword::thiamine |
| Linked Question | Linked:: |
| Order in Linked Questions | LinkedOrder:: |