Argininosuccinate Synthetase Deficiency/Citrullinemia I (Cit-1)
is a rare genetic disorder caused by the partial or complete lack of the enzyme Argininosuccininate Synthetase.To minimize the build up of ammonia in the blood, people with Cit-1 are prescribed a low protein diet and Arg is carefully monitored.
This App is designed to support families and children with Cit-1 treated with a protein-restricted diet.
What is Cit-1?
Argininosuccininate Synthetase deficiency, also know as Citrullinemia 1 (Cit-1), is a rare genetic disorder caused by the partial or complete lack of the enzyme Argininosuccininate Synthetase. Read more on Cit-1 via this link.
Argininosuccininate Synthetase is an enzyme that plays a role in the urea cycle and is part of a group of disorders known as the Urea Cycle Disorders.
Argininosuccininate Synthetase combines the amino acids, citrulline (Cit) and aspartate (Asp) to make the molecule argininosuccinate. Argininosuccinate then continues through the urea cycle, is broken down by other enzymes and eventually produces urea.
Arg is supplemented to certain patients to decrease the ammonia concentration in the blood.
Arg is an important amino acid that makes up protein in foods. Protein is important for growth in children and health maintenance in adults.
Symptoms for Cit-1 may appear shortly after birth.
Untreated people with Cit-1 may present, but are not limited to, symptoms of NAGS may appear as early as the first few days of such as lack of appetite, irritability, laboured breathing, lethargy, and vomiting.
Why a diet?
To minimize the build up of ammonia in the blood, people with Cit-1 are prescribed a low protein diet and Arg is carefully monitored.
People living with Cit-1 are prescribed their daily protein restriction by their doctor or dietitian. These daily goals often need to be changed based on each person’s nutritional needs and age requirements.
Calculating and tracking protein intake can be a very hard and troublesome task for those with protein-restricted diets.
We hope this App makes daily protein counting and meal planning easier for people following low protein diets.
For whom?
This App is designed to support families and children with Cit-1 treated with a protein-restricted diet.
This App is not a substitute for the health care provided by your medical team!