Accumulation of homogentisic acid causes?
**Core Concept**
Ochronosis is a clinical condition characterized by the accumulation of homogentisic acid, a metabolite of tyrosine. This accumulation results from a defect in the enzyme homogentisate 1,2-dioxygenase (HGD), which normally breaks down homogentisic acid in the liver.
**Why the Correct Answer is Right**
Homogentisic acid accumulates due to the impaired activity of HGD, leading to its deposition in connective tissues and causing a bluish discoloration of the skin, known as ochronosis. This condition is associated with the genetic disorder alkaptonuria, which is inherited in an autosomal recessive pattern. The accumulation of homogentisic acid also leads to the formation of ochronotic pigments, which are responsible for the characteristic darkening of cartilage and other tissues.
**Why Each Wrong Option is Incorrect**
**Option B:** Tyrosinemia is a group of metabolic disorders characterized by the accumulation of toxic byproducts of tyrosine metabolism. While it is related to tyrosine metabolism, it is not directly caused by the accumulation of homogentisic acid.
**Option C:** Albinism refers to a group of genetic disorders characterized by the lack of melanin production, leading to skin, hair, and eye pigmentation. It is not related to the accumulation of homogentisic acid.
**Option D:** Tyrosinosis is not a recognized medical term and is likely a distractor in this question.
**Clinical Pearl / High-Yield Fact**
Alkaptonuria, the genetic disorder associated with ochronosis, is often referred to as "black urine disease" due to the dark color of the urine in affected individuals.
β Correct Answer: A. Ochronosis