Inborn errors of metabolism
An inherited disease in which the body cannot break down an amino acid called tyrosine. It often begins in a baby's first months of life. It can severely affect the liver and kidneys.
Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source
Orphanet has a guideline for emergency doctors for this disease (language: English, French). See on Orphanet
This page is translated from the Turkish original.
This disease is followed through the “Inborn errors of metabolism” group.
The body cannot break down an amino acid called tyrosine. The enzyme for the last step of this process does not work. Harmful substances build up; the liver and kidneys are damaged most. If it is not treated, it is life-threatening.
Symptoms often begin in the baby's first months. In some children, they begin later and are milder.
Finding a substance called succinylacetone in the blood or urine indicates the diagnosis. Liver tests and amino acid levels are also checked. The diagnosis is confirmed with a genetic test. It is also looked for in some newborn screening programs.
Treatment is based on a medicine that stops the production of the harmful substance, together with a low-protein diet. With this treatment started early, results are good in most patients. In some cases, a liver transplant may be considered. The doctor who follows the disease decides which treatment is suitable.
The disease is passed on through recessive inheritance. The mother and father are often healthy carriers. For a couple who are both carriers, the chance of having an affected child is 1 in 4 in each pregnancy. Genetic counselling is recommended for brothers and sisters and for future pregnancies.
Source: MedlinePlus Genetics — Tyrosinemia · Orphanet — Tyrosinemia type 1
These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.
Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.
For all rare diseases: Nadir Hastalıklar Federasyonu
Links checked on October 8, 2026.
Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.
IndiaResearch and clinical trials
In India, researchers reviewed the results of 18 children with tyrosinemia type 1 who were diagnosed late.
A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.
ClinicalTrials.gov currently lists no active interventional studies for this disease. Last checked: October 7, 2026.
See all studies on ClinicalTrials.gov · Joining clinical trials
EUNew treatments and approvals
In Europe, leriglitazone, taken by mouth, was authorized for cerebral adrenoleukodystrophy.
USANew treatments and approvals
Through the accelerated pathway, the FDA has approved pariglasgene brecaparvovec for glycogen storage disease type Ia.
EuropeResearch and clinical trials
A total of 58 patients from 34 centers in seven European countries were followed.
These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.
Orphanet code: ORPHA:882 · ICD-11 5C50.11
Codes checked against WHO ICD-11 and Orphanet on October 6, 2026.
This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.