List of amino acid metabolism disorders

List of Amino Acid Metabolism Disorders

Amino acid metabolism disorders are a group of genetic disorders that affect the body's ability to break down and utilize amino acids. This article provides a comprehensive list of these disorders, along with brief descriptions and links to further information.

Phenylketonuria (PKU)

Phenylketonuria is a metabolic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase. This enzyme is responsible for converting the amino acid phenylalanine into another amino acid called tyrosine. Without this enzyme, phenylalanine builds up in the blood and can cause intellectual disability and other health problems.

For more information, see the article on Phenylketonuria.

Maple Syrup Urine Disease (MSUD)

Maple Syrup Urine Disease is a rare genetic disorder characterized by the body's inability to break down certain amino acids, including leucine, isoleucine, and valine. This leads to a buildup of these amino acids and their byproducts in the blood and urine, giving the urine a distinctive sweet smell, similar to maple syrup.

For more information, see the article on Maple Syrup Urine Disease.

Homocystinuria

Homocystinuria is a metabolic disorder caused by a deficiency of enzymes involved in the metabolism of the amino acid methionine. This leads to an accumulation of homocysteine, which can cause a variety of health problems, including intellectual disability, skeletal abnormalities, and increased risk of blood clots.

For more information, see the article on Homocystinuria.

Cystinuria

Cystinuria is a genetic disorder characterized by the impaired reabsorption of the amino acid cystine in the kidneys. This leads to the formation of cystine stones in the urinary tract, which can cause pain and other complications.

For more information, see the article on Cystinuria.

Tyrosinemia

Tyrosinemia is a group of genetic disorders that affect the breakdown of the amino acid tyrosine. There are three types of tyrosinemia, each caused by a deficiency of a different enzyme involved in tyrosine metabolism. Without these enzymes, tyrosine and its byproducts can accumulate in the body and cause liver and kidney damage.

For more information, see the article on Tyrosinemia.

Argininosuccinic Aciduria

Argininosuccinic Aciduria is a rare genetic disorder characterized by a deficiency of the enzyme argininosuccinate lyase. This enzyme is involved in the breakdown of the amino acid arginine. Without it, arginine and its byproducts can build up in the blood, leading to a variety of health problems, including intellectual disability and liver damage.

For more information, see the article on Argininosuccinic Aciduria.

Histidinemia

Histidinemia is a metabolic disorder caused by a deficiency of the enzyme histidase, which is responsible for breaking down the amino acid histidine. Without this enzyme, histidine can accumulate in the blood and urine, but it is generally considered a benign condition with no significant health consequences.

For more information, see the article on Histidinemia.

Glycine Encephalopathy

Glycine Encephalopathy, also known as nonketotic hyperglycinemia, is a rare genetic disorder characterized by a deficiency of the enzyme glycine cleavage system. This enzyme is responsible for breaking down the amino acid glycine. Without it, glycine can accumulate in the brain and other tissues, leading to severe neurological problems and developmental delay.

For more information, see the article on Glycine Encephalopathy.

See also

• Inborn Errors of Metabolism
• Metabolic Disorder
• Amino Acid
• Metabolism