children s health issues
Homocystinuria
Introduction
Homocystinuria is a Overview of Amino Acid Metabolism Disorders that is caused by a lack of the enzyme cystathionine beta-synthase, which is needed to metabolize the amino acid homocysteine. This disorder can cause a number of symptoms, including decreased vision, intellectual disability, and skeletal abnormalities. Homocystinuria occurs when parents pass the defective Homocystinuria is caused by a lack of the enzyme needed to metabolize homocysteine. Symptoms include intellectual disability, eye problems, and abnormalities of the skeleton. The diagnosis is based on a blood test. A special diet and supplements of vitamin B6, betaine, andfolic acidmay help some children. Branched-Chain Amino Acids are the building blocks of proteins and have many functions in the body. The body makes some of the amino acids it needs and gets others from food. Children with homocystinuria are unable to break down (metabolize) the amino acid homocysteine, which, along with certain toxic by-products, builds up to cause a variety of symptoms. Symptoms of homocystinuria range from mild to severe. There are different types of Inheritance of Single-Gene Disorders . In homocystinuria, both parents of the affected child carry a copy of the abnormal gene. Because usually two copies of the abnormal gene are necessary for the disorder to occur, usually neither parent has the disorder. (See also 