Citrullinemia (CIT) A urea cycle disorder What is it? Citrullinemia (also known as argininosuccinic acid synthetase deficiency (CIT)) is a urea cycle disorder. People with urea cycle disorders, like CIT, cannot properly

First Page		Document Content
Date: 2007-09-13 15:35:42 Rare diseases Urea cycle disorder Citrullinemia Newborn screening Medical genetics Argininosuccinate synthase Argininosuccinic aciduria Carbamoyl phosphate synthetase I deficiency Medicine Health Urea cycle		Citrullinemia (CIT) A urea cycle disorder What is it? Citrullinemia (also known as argininosuccinic acid synthetase deficiency (CIT)) is a urea cycle disorder. People with urea cycle disorders, like CIT, cannot properly Add to Reading List Source URL: www.health.mo.gov Download Document from Source Website File Size: 85,14 KB Share Document on Facebook

	STATE of MINNESOTA WHEREAS: Urea Cycle Disorders are rare diseases, occurring at an overall incidence of at least 1 in 35,000 births, and likely higher. Newborns affected with Urea Cycle Disorders can DocID: 19MPN - View Document
	UCDC Newsletter_4.22.13_Final.pub DocID: HWNL - View Document
	AMINO ACID DISORDERS Karla J Matteson, PhD, FACMG University of Tennessee Genetic Center, Knoxville Outcome without screening: The amino acid disorders are a collection of disorders that involve enzyme deficiencies that DocID: HMYb - View Document
	Citrullinemia (CIT) (metabolic condition: amino acid disorder) Also known as: • citrullinuria DocID: Ehty - View Document
	NEWBORN SCREENING FACT SHEET ASAS Deficiency (Citrullinemia) also milder forms that start later in infancy or childhood. There is also a rare adult form more common in people of Japanese heritage. DocID: zHqm - View Document