Disorders of tyrosine metabolism digital illustration

Disorders of tyrosine metabolism Save

ICD-10 code: E70.2

Chapter: Endocrine, nutritional and metabolic diseases

Disorders of Tyrosine Metabolism

Tyrosine is an amino acid that is used by the body to make proteins. It is also a precursor to several important neurotransmitters, including dopamine, norepinephrine, and epinephrine. Disorders of tyrosine metabolism refer to a group of rare genetic disorders that affect the body's ability to break down and process tyrosine. These disorders can lead to a variety of symptoms, including developmental delays, intellectual disability, and liver and kidney damage.

  1. Phenylketonuria (PKU)
  2. PKU is the most common disorder of tyrosine metabolism. It is caused by a deficiency in the enzyme phenylalanine hydroxylase, which is needed to convert phenylalanine (an amino acid) to tyrosine. Without this enzyme, phenylalanine builds up in the blood and can cause brain damage and intellectual disability.

  3. Tyrosinemia
  4. Tyrosinemia is a group of three related disorders that affect the body's ability to break down tyrosine. The most severe form, tyrosinemia type I, can cause liver failure and kidney dysfunction. The other two forms, tyrosinemia type II and III, are milder and primarily affect the eyes and skin.

  5. Alkaptonuria
  6. Alkaptonuria is a rare genetic disorder that affects the body's ability to break down tyrosine and phenylalanine. The buildup of these amino acids can cause a variety of symptoms, including black urine, joint pain, and heart problems.

Diagnosis of disorders of tyrosine metabolism typically involves blood and urine tests to measure levels of tyrosine and its byproducts. Treatment usually involves dietary changes to limit the intake of tyrosine and its precursors, as well as medications to help the body break down these amino acids.

Overall, disorders of tyrosine metabolism are rare but serious conditions that can have lifelong effects on those affected. Early diagnosis and treatment are crucial for managing symptoms and preventing long-term complications.