Learn About Citrullinemia

What is the definition of Citrullinemia?

Citrullinemia is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. Two types of citrullinemia have been described; they have different signs and symptoms and are caused by mutations in different genes.

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What are the causes of Citrullinemia?

Mutations in the ASS1 and SLC25A13 genes cause citrullinemia. The proteins produced from these genes play roles in the urea cycle. The urea cycle is a sequence of chemical reactions that takes place in liver cells. These reactions process excess nitrogen that is generated when protein is used by the body. The excess nitrogen is used to make a compound called urea, which is excreted in urine.

How prevalent is Citrullinemia?

Type I citrullinemia is the most common form of the disorder, affecting about 1 in 57,000 people worldwide. Type II citrullinemia is found primarily in the Japanese population, where it occurs in an estimated 1 in 100,000 to 230,000 individuals. Type II also has been reported in other populations, including other people from East Asia, the Middle East, the United States, and the United Kingdom.

Is Citrullinemia an inherited disorder?

Both types of citrullinemia are inherited in an autosomal recessive pattern, which means both copies of the respective gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

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What are the latest Citrullinemia Clinical Trials?
Noninvasive Biomarkers of Hepatic Fibrosis in Urea Cycle Disorders
Summary: This is a multi-center, cross-sectional study to assess risk for liver fibrosis and hepatic injury in individuals with urea cycle disorders (UCDs) using serum biomarkers, Fibroscan, and MRE. This study will be conducted at 5 sites of the Urea Cycle Disorders Consortium: Baylor College of Medicine in Houston, TX, Seattle Children's Hospital in Seattle, WA, Children's Hospital Colorado in Aurora, CO...
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Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders
Summary: In proximal urea cycle disorders (UCD), particularly ornithine transcarbamylase deficiency (OTCD), hyperammonemia (HA) causes increased brain glutamine (Gln) which perturbation is thought to be at the core of the neurological injury. In contrast, in distal UCD such as citrullinemia (argininosuccinate synthetase deficiency; (ASSD) and argininosuccinic aciduria (argininosuccinate lyase deficiency); ...
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Published Date: May 01, 2017Published By: National Institutes of Health

What are the Latest Advances for Citrullinemia?
Naturally-occurring spinosyn A and its derivatives function as argininosuccinate synthase activator and tumor inhibitor.
Summary: Naturally-occurring spinosyn A and its derivatives function as argininosuccinate synthase activator and tumor inhibitor.
Outcome of Liver Transplantation for Neonatal-onset Citrullinemia Type I.
Summary: Outcome of Liver Transplantation for Neonatal-onset Citrullinemia Type I.
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Percutaneous removal of biliary stones post-liver transplant in a pediatric patient: Case report and review of the literature.
Summary: Percutaneous removal of biliary stones post-liver transplant in a pediatric patient: Case report and review of the literature.