Inborn errors of metabolism
An inherited urea cycle disorder. The body cannot get rid of ammonia, and ammonia builds up in the blood. Weakness and vomiting usually begin a few days after birth.
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: French). See on Orphanet
This page is translated from the Turkish original.
This disease is followed through the “Inborn errors of metabolism” group.
The liver makes the ammonia that comes from protein harmless through the urea cycle. In this disease, one of the enzymes in the cycle is missing. Ammonia and citrulline build up in the blood. Ammonia affects the brain most.
In the classic form, the baby looks healthy at birth, and symptoms begin in the first days. Milder forms can appear in childhood or adulthood.
Ammonia and citrulline in the blood are high. The diagnosis is confirmed with a genetic test. In many countries, it can be found through newborn screening. Testing right after birth is recommended for brothers and sisters of an affected child.
A low-protein, high-calorie diet and special nutritional supplements are used. Medicines that help remove ammonia are given. In a severe episode, dialysis may be needed. In some people, 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 usually healthy carriers. For a couple who are both carriers, the chance of having an affected child is 1 in 4 in each pregnancy. When relatives marry, the chance that two carriers have children together is higher. Genetic counselling guides the family.
Source: MedlinePlus Genetics: Citrullinemia · NORD: Citrullinemia 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.
TürkiyeResearch and clinical trials
At Cerrahpaşa, 6 children diagnosed with a mild form of citrullinemia type 1 were followed over a long period.
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:247525
No separate ICD-11 code; WHO classifies this disease under: 5C50.A3
Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.
This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.