Health Professionals Guide to Newborn Screening

Tyrosinemia (Types I, II, III)

Autosomal recessive amino acid disorder caused by a deficiency in fumarylacetoacetate hydrolase enzyme activity causing the build up of the amino acid tyrosine in the blood. Early detection and treatment is successful in preventing poor growth, liver damage, swelling of the legs, and inappropriate bleeding.

Prevalence (WI):	1:250,000
Analyte Measured:	Tyrosine
Abnormal Levels:	³ 360 µmol/L
Feeding Effect:	Minimal
Timing Effect:	< 24 hours of age: Repeat at two weeks ³ 24 hours of age: Results are valid
Confirmation:	Immediate consult with a metabolic specialist at a metabolic treatment center.
Treatment:	The treatment for tyrosinemia is the dietary restriction of phenylalanine, methionine, tyrosine and administration of the drug NTBC. Although this treatment regimen is successful in delaying the clinical symptoms of tyrosinemia, the only effective long-term treatment is liver transplantation.

Information on treatment centers is also available on this site.

For information about other screened disorders, click on the next page button, or follow one of these links:

• Argininosuccinic Acidemia (ASA)	• Hemoglobin Variants
• Biotinidase Deficiency	• Homocystinuria
• Congenital Adrenal Hyperplasia	• Hypermethioninemia
• Congenital Hypothyroidism	• Hyperphenyalaninemia
• Citrullinemia (Types I & II)	• Maple Syrup Urine Disease
• Cystic Fibrosis	• Organic Acidemias (14)
• Fatty Acid Oxidation Disorders (12)	• Phenylketonuria (Includes Biopterin Cofactor defects of regeneration and biosynthesis)
• Galactosemia	• Severe Combined Immune Deficiency (SCID)
• Hemoglobin S-Beta Thallassemia	• Sickle Cell Disease
• Hemoglobin S/C Disease	• Tyrosinemia (Types I,II, & III)

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