Which of the following amino acid is excreted in urine in maple syrup urine disease
**Core Concept**
Maple syrup urine disease (MSUD) is a metabolic disorder caused by a deficiency of the branched-chain alpha-keto acid dehydrogenase complex. This enzyme is necessary for the breakdown of the branched-chain amino acids leucine, isoleucine, and valine.
**Why the Correct Answer is Right**
In MSUD, the accumulation of these branched-chain amino acids leads to their increased excretion in the urine. The characteristic sweet odor of the urine is due to the presence of these amino acids and their corresponding branched-chain keto acids. The branched-chain amino acids are not properly metabolized, resulting in their increased levels in the blood and urine.
**Why Each Wrong Option is Incorrect**
**Option A:** Phenylalanine is associated with a different metabolic disorder, known as phenylketonuria (PKU), which is caused by a deficiency of the enzyme phenylalanine hydroxylase. While both conditions involve amino acid metabolism, they are distinct and not related to MSUD.
**Option B:** Tyrosine is another amino acid involved in a different metabolic pathway, and its metabolism is not directly related to MSUD. Tyrosine is converted to acetoacetate and acetyl-CoA through the action of various enzymes, but this process is separate from the branched-chain amino acid metabolism.
**Option C:** Tryptophan is an essential amino acid that is involved in the synthesis of serotonin and niacin. While tryptophan is an important amino acid, its metabolism is not directly related to MSUD.
**Clinical Pearl / High-Yield Fact**
MSUD is an autosomal recessive disorder, meaning that affected individuals inherit two defective copies of the gene, one from each parent. Early diagnosis and treatment are crucial in preventing the development of severe neurological symptoms and improving outcomes.
**Correct Answer:** A. Leucine.