Alkaptonuria an inherited metabolic disorder is due to the deficiency of
**Core Concept**
Alkaptonuria is a rare genetic disorder characterized by the accumulation of homogentisic acid due to a defect in the breakdown of tyrosine and phenylalanine. This condition is caused by a deficiency of an enzyme involved in the catabolic pathway of these amino acids.
**Why the Correct Answer is Right**
The correct enzyme responsible for the deficiency is homogentisate oxidase. This enzyme catalyzes the oxidation of homogentisic acid to maleylacetoacetic acid, a key step in the degradation of tyrosine and phenylalanine. Without this enzyme, homogentisic acid accumulates and is excreted in the urine, leading to the characteristic dark coloration and other symptoms associated with alkaptonuria. The deficient enzyme is located in the liver and is involved in the tyrosine catabolic pathway.
**Why Each Wrong Option is Incorrect**
**Option A:** Cystathionase is the enzyme responsible for the breakdown of homocysteine to cysteine, which is not related to alkaptonuria.
**Option B:** Cystathionase is involved in the transsulfuration pathway, where homocysteine is converted to cysteine, and this is not relevant to the catabolism of tyrosine or phenylalanine.
**Option C:** Phenylalanine hydroxylase is the enzyme deficient in phenylketonuria (PKU), a different genetic disorder that affects the metabolism of phenylalanine.
**Option D:** Tyrosine transaminase is involved in the first step of tyrosine catabolism, but its deficiency leads to a different disorder, tyrosinemia type II.
**Clinical Pearl / High-Yield Fact**
Alkaptonuria is an autosomal recessive disorder, meaning that individuals must inherit two defective genes (one from each parent) to express the condition. The accumulation of homogentisic acid in the urine is a hallmark of the disease and can be detected by a simple chemical test.
**β Correct Answer: A. Homogentisate oxidase**