About
Tyrosinemia, type I (TYR I) is an inherited condition in which the body is unable to break down certain building blocks of proteins, known as amino acids. Individuals with this condition are unable to break down the amino acid tyrosine. Early detection and treatment can often prevent many of the serious outcomes of TYR I. There are three types of tyrosinemia — I, II, and III. Type I is the most severe of the three forms. Signs of TYR I usually begin in the first few months of life, though some individuals do not begin showing signs until childhood. Signs of TYR I include diarrhea, bloody stool, vomiting, poor weight gain, sleeping longer and more often, tiredness, irritability, “cabbage-like” odor, yellowing skin (jaundice), increased bleeding or bruising, swollen legs or abdomen, developmental delays, and trouble breathing. Many of these signs may occur when a baby eats foods the body cannot break down.
Condition Type:
Core Conditions
Frequency:
Tyrosinemia, type I (TYR I) affects about 1 in 100,000 individuals worldwide.
More Information for Parents:
Also known as:
- TYR I
- Hypertyrosinemia
- Hereditary tyrosinemia
- Hepatorenal tyrosinemia
- Fumarylacetoacetase deficiency
- Fumarylacetoacetate hydrolase deficiency
- FAH deficiency
- Tyrosinosis
Core Conditions
- Propionic Acidemia (PROP)
- Methylmalonic Acidemia (Methylmalonyl-CoA Mutase Deficiency) (MUT)
- Methylmalonic Acidemia (Cobalamin Conditions)
- Isovaleric Acidemia (IVA)
- 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)
- 3-Hydroxy-3-Methylglutaric Aciduria (HMG)
- Holocarboxylase Synthetase Deficiency (MCD)
- Beta-Ketothiolase Deficiency (BKT)
- Glutaric Acidemia, Type I (GA-1)
- Mucopolysaccharidosis, Type II (MPS II)
- Biotinidase Deficiency (BIOT)
- Critical Congenital Heart Disease (CCHD)
- Cystic Fibrosis (CF)
- Classic Galactosemia (GALT)
- Hearing Loss or Varying Hearing Levels
- Severe Combined Immunodeficiency (SCID)
- X-Linked Adrenoleukodystrophy (X-ALD)
- Pompe
- Spinal Muscular Atrophy (SMA)
- Mucopolysaccharidosis, Type I (MPS I)
Secondary
- Citrullinemia, Type II (CIT II)
- Hypermethioninemia (MET)
- Benign Hyperphenylalaninemia (H-PHE)
- Biopterin Defect in Cofactor Biosynthesis (BIOPT-BS)
- Biopterin Defect in Cofactor Regeneration (BIOPT-REG)
- Ornithine Transcarbamylase Deficiency (OTC)
- Carbamoyl Phosphate Synthetase Deficiency (CPS)
- Tyrosinemia, Type II (TYR II)
- Tyrosinemia, Type III (TYR III)