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Tyrosinemia

By

Matt Demczko

, MD, Sidney Kimmel Medical College of Thomas Jefferson University

Last full review/revision Dec 2021| Content last modified Dec 2021
CLICK HERE FOR THE PROFESSONAL VERSION
  • 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.

Amino acids Branched-Chain Amino Acids Amino acid metabolism disorders are hereditary metabolic disorders. Hereditary disorders occur when parents pass the defective genes that cause these disorders on to their children. In most... read more 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 two main types of tyrosinemia and a third, uncommon form:

  • Type I

  • Type II

  • Type III (rare)

Type I tyrosinemia

Type I tyrosinemia is most common among children of French-Canadian or Scandinavian descent.

Every state in the United States requires all newborns be screened for type I tyrosinemia with a blood test. To confirm the diagnosis, genetic testing or other tests of the blood and urine and a biopsy of the liver are done.

Restriction of the amino acids tyrosine and phenylalanine in the diet is recommended. A drug called nitisinone (also known as NTBC), which blocks production of toxic metabolites, may help children with type I tyrosinemia. Often, children with type I tyrosinemia require a liver transplant Liver Transplantation Liver transplantation is the surgical removal of a healthy liver or sometimes a part of a liver from a living person and then its transfer into a person whose liver no longer functions. (See... read more .

Type II tyrosinemia

Diagnosis of type II tyrosinemia is with a blood test. Other tests of the blood and urine and a biopsy of the liver may be done.

Treatment of type II tyrosinemia is by restricting tyrosine and phenylalanine in the diet.

Type III tyrosinemia

Diagnosis of type III tyrosinemia is with a newborn blood screening test. Urine and blood tests may also be done if the screening is abnormal.

Treatment of type III tyrosinemia is by restricting tyrosine and phenylalanine in the diet.

More Information

The following are some English-language resources that may be useful. Please note that THE MANUAL is not responsible for the content of these resources.

NOTE: This is the Consumer Version. DOCTORS: CLICK HERE FOR THE PROFESSONAL VERSION
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