What are metabolic defects?

Overview. Inherited metabolic disorders refer to different types of medical conditions caused by genetic defects — most commonly inherited from both parents — that interfere with the body’s metabolism. These conditions may also be called inborn errors of metabolism.

Which disorder is inborn errors of metabolism?

Such prototypical inborn errors of metabolism include PKU, ornithine transcarbamylase deficiency, methylmalonicaciduria, medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, galactosemia, and Gaucher’s disease.

Are metabolic disorders genetic?

Inherited metabolic disorders are genetic conditions that result in metabolism problems. Most people with inherited metabolic disorders have a defective gene that results in an enzyme deficiency. There are hundreds of different genetic metabolic disorders, and their symptoms, treatments, and prognoses vary widely.

Which inherited disorder causes a defect in amino acid metabolism?

Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine.

What is an amino acid metabolism disorder?

Summary. One group of these disorders is amino acid metabolism disorders. They include phenylketonuria (PKU) and maple syrup urine disease. Amino acids are “building blocks” that join together to form proteins. If you have one of these disorders, your body may have trouble breaking down certain amino acids.

What causes amino acid processing disorders?

Hereditary disorders of amino acid processing (metabolism) can result from defects either in the breakdown of amino acids or in the body’s ability to get amino acids into cells. Because these disorders cause symptoms early in life, newborns are routinely screened for several common amino acid disorders.

What happens if you have an amino acid deficiency?

Summary. If you have one of these disorders, your body may have trouble breaking down certain amino acids. Or there may be a problem getting the amino acids into your cells. These problems cause a buildup of harmful substances in your body. That can lead to serious, sometimes life-threatening, health problems.

What is produced when amino acids are metabolized?

Amino acid metabolism both produces and consumes hydrogen ions, according to the type of amino acid concerned. The metabolism of neutral amino acids eventually results in the formation of urea and carbon dioxide, for example: It is instructive, however, to look at this process in more detail.