What is Type 1 Tyrosinemia?
Type 1 Tyrosinemia is a rare inherited metabolic disorder in which the body is unable to properly break down the amino acid tyrosine due to a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH). As a result, toxic byproducts accumulate, causing damage to the liver and kidneys.
The disease usually appears in early infancy (within the first months of life) with severe liver involvement. Without treatment, it rapidly progresses to liver failure, cirrhosis, and a high risk of developing hepatocellular carcinoma.
Jaundice within the first months of life
Enlarged liver and spleen
Vomiting, diarrhea, poor weight gain
Ascites, swelling, bleeding
Growth and developmental delay
Kidney involvement: rickets, osteoporosis, kidney failure
Over time: risk of liver cancer
Yes. It is inherited in an autosomal recessive manner: both parents are carriers of the defective gene, and the child becomes affected only if they inherit two copies.
Specific treatment: nitisinone (NTBC), which blocks the formation of toxic byproducts and significantly improves prognosis
Diet: restriction of the amino acids tyrosine and phenylalanine
Additional treatment: support of liver and kidney function, vitamin supplementation
Liver transplantation: in cases of severe liver damage or cancer development
Without treatment, the disease almost always leads to death in childhood due to liver or kidney failure. Thanks to nitisinone, children can live long lives and avoid many complications, but the risk of liver cancer remains, so continuous monitoring is necessary.
Biochemical tests (elevated tyrosine, ferritin, abnormal liver and kidney markers)
Detection of the specific metabolite succinylacetone in urine or blood — the main diagnostic sign
Genetic testing (confirms mutations in the FAH gene)
Ultrasound and MRI of the liver to detect fibrosis or tumors
Liver: cirrhosis, liver failure, hepatocellular carcinoma
Kidneys: tubular dysfunction, rickets, osteoporosis
Bones: deformities due to impaired calcium metabolism
Nervous system: in some cases, acute neurological crises (seizures, weakness)
Nitisinone dramatically improves the course of the disease but does not correct the genetic cause. The only radical treatment is liver transplantation.
Follow a diet restricting tyrosine and phenylalanine — this is key to effective treatment.
Take nitisinone daily, without breaks, under medical supervision.
Regularly monitor liver health (ultrasound, MRI, alpha-fetoprotein for early tumor detection).
Track your child’s growth and development, and monitor vitamin D and mineral balance.
Remember: with modern treatment, children with Type 1 Tyrosinemia can live full and active lives.
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SAVELIFEKIDS-UA helps children with severe liver diseases receive medical care, including transplants.
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