Definition for homocystinuria

Homocystinuria, also known as Cystathionine beta synthase deficiency, is an inherited disorder of the metabolism of the amino acid methionine. more

Homocystinuria, also known as Cystathionine beta synthase deficiency, is an inherited disorder of the metabolism of the amino acid methionine. It is an inherited autosomal recessive trait, which means a child needs to inherit the defective gene from both parents to be affected. This defect leads to a multisystemic disorder of the connective tissue, muscles, CNS, and cardiovascular system. Homocystinuria represents a group of hereditary metabolic disorders characterized by an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. Infants appear to be normal and early symptoms, if any are present, are vague. less