Citrullinemia Overview
Learn About Citrullinemia
View Main Condition: Urea Cycle Disorders (UCD)
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.
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.
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.
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.
Takeyori Saheki practices in Kagoshima, Japan. Saheki and is rated as an Elite expert by MediFind in the treatment of Citrullinemia. Their top areas of expertise are Citrullinemia, Urea Cycle Disorders (UCD), Cholestasis, and Bile Duct Obstruction.
Kiyoshi Hayasaka practices in Yamagata, Japan. Hayasaka and is rated as an Elite expert by MediFind in the treatment of Citrullinemia. His top areas of expertise are Citrullinemia, Urea Cycle Disorders (UCD), Congenital Central Hypoventilation Syndrome, West Syndrome, and Liver Transplant.
Toshihiro Ohura practices in Sendai, Japan. Ohura and is rated as an Elite expert by MediFind in the treatment of Citrullinemia. Their top areas of expertise are Citrullinemia, Urea Cycle Disorders (UCD), Phenylketonuria (PKU), and Beta-Ketothiolase Deficiency.
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...
Summary: Citrin deficiency (CD) is an underdiagnosed and understudied condition characterized by several distinct phenotypes: 1) neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), 2) the adaptation or silent period, 3) failure to thrive and dyslipidemia form of CD (FTTDCD), and 4) citrullinemia type II (CTLN2), with the latter representing the final and most severe form of the condition...
Published Date: May 01, 2017
Published By: National Institutes of Health