Homocystinuria

📋Overview

This condition is characterized by an abnormal accumulation of homocysteine in the blood and urine due to defects in enzymes involved in methionine metabolism. It is most commonly associated with a deficiency of cystathionine beta-synthase, which is essential for breaking down protein building blocks.

As an inborn error of metabolism, the disorder is typically inherited in an autosomal recessive pattern. The resulting metabolic imbalance can affect various physiological systems as the body fails to maintain typical levels of specific chemicals required for cellular function.