Disease or Syndrome
citrullinemia
Subclass of:
Urea Cycle Disorders, Inborn
Definitions related to citrullinemia:
-
A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
-
A rare autosomal recessive inherited disorder caused by mutations in the ASS1 and SLC25A13 genes. It is characterized by a defective urea cycle, resulting in the accumulation of ammonia and other toxic substances in the blood.NCI ThesaurusU.S. National Cancer Institute, 2021
-
(citrullinuria) An increased concentration of citrulline in the urine.Human Phenotype Ontology (HPO)The Human Phenotype Ontology Project, 2021
-
(arginosuccinate synthetase deficiency) Autosomal recessive aminoacidopathy characterized by marked elevation in plasma and urine levels of citrulline, with hyperammonemia and sometimes secondary oroticaciduria; clinical findings include mental retardation and neurologic abnormalities.CRISP ThesaurusNational Institutes of Health, 2006
-
Citrulline is the resultant product of the condensation reaction that occurs during normal function of the ornithine transcarbamylase reaction. Under normal circumstances, citrulline is condensed with aspartic acid to form argininosuccinic acid (ASA), which is a reaction mediated by the argininosuccinic acid synthase enzyme.WebMD, 2019
-
Citrullinemia type 1 is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. There are four types. The classic, most severe form, occurs in newborns, while a milder, later-onset form occurs in children or adults. There's also a form that occurs during or after pregnancy, and a form with no...National Center for Advancing Translational Sciences
Return to OpenMD Medical Dictionary
> C
This content should not be used in place of medically-reviewed decision support reference material or professional medical advice. Some terms may have alternate or updated definitions not reflected in this set. The definitions on this page should not be considered complete or up to date.