children s health issues
Tyrosinemia
Introduction
Tyrosinemia is a Overview of Amino Acid Metabolism Disorders that is caused by a lack of the enzyme needed to metabolize tyrosine. The most common form of this disorder mostly affects the liver and the kidneys. Tyrosinemia occurs when parents pass a defective Tyrosinemia is caused by a lack of the enzyme needed to metabolize the amino acid tyrosine. Symptoms include intellectual disability, liver and kidney disease, and body fluids that smell like boiled cabbage. The diagnosis is based on a blood test. A special diet and sometimes drugs may 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 tyrosinemia are unable to completely break down (metabolize) the amino acid tyrosine. By-products of this amino acid build up, causing a variety of symptoms. These by-products also cause body fluids, such as urine and sweat, to smell like boiled cabbage. There are different types of Inheritance of Single-Gene Disorders . In tyrosinemia, 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 In some states, the disorder is detected with Newborn Screening Tests . There are two main types of tyrosinemia and a third, uncommon form: Type I Type II Type III (rare) 