MCID: URC002
MIFTS: 43

Urea Cycle Disorder malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Aliases & Classifications for Urea Cycle Disorder

About this section

Urea Cycle Disorder, Aliases & Descriptions:

Name: Urea Cycle Disorder 30 9 11
Urea Cycle Disorders 19 41 20
Disorder of Urea Cycle Metabolism 9 22
Disorder of Metabolism of Ornithine, Citrulline, Argininosuccinic Acid, Arginine and Ammonia 9
 
Disorder of Urea Cycle Metabolism and Ammonia Detoxification 41
Urea Cycle Disorders, Inborn 60
Urea Cycle Defect 9
Ucd 41


Classifications:



External Ids:

Disease Ontology9 DOID:9267
MeSH33 D056806
ICD9CM27 270.6
SNOMED-CT55 36444000
NCIt38 C84785
ICD1025 E72.2

Summaries for Urea Cycle Disorder

About this section


NIH Rare Diseases:41 A urea cycle disorder is a genetic disorder that results in a deficiency of one of the six enzymes in the urea cycle. these enzymes are responsible for removing ammonia from the blood stream. the urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is changed to a compound called urea and removed from the blood. normally, the urea is removed from the body through the urine. in urea cycle disorders, nitrogen builds up in the blood in the form of ammonia, a highly toxic substance, resulting in hyperammonemia (elevated blood ammonia). ammonia then reaches the brain through the blood, where it can cause irreversible brain damage, coma and/or death. the onset and severity of urea cycle disorders is highly variable. the severity correlates with the amount of urea cycle enzyme function. last updated: 9/10/2013

MalaCards based summary: Urea Cycle Disorder, also known as urea cycle disorders, is related to argininosuccinic aciduria and carbamoylphosphate synthetase i deficiency. An important gene associated with Urea Cycle Disorder is NAGS (N-acetylglutamate synthase), and among its related pathways are Alanine and aspartate metabolism and Alanine, aspartate and glutamate metabolism. The compounds benzoate and Canavaninosuccinate have been mentioned in the context of this disorder. Affiliated tissues include brain and liver, and related mouse phenotypes are growth/size/body and integument.

Disease Ontology:9 An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream.

Wikipedia:63 A urea cycle disorder or urea cycle defect is a genetic disorder caused by a deficiency of one of the... more...

GeneReviews summary for ucd-overview

Related Diseases for Urea Cycle Disorder

About this section

Graphical network of the top 20 diseases related to Urea Cycle Disorder:



Diseases related to urea cycle disorder

Symptoms for Urea Cycle Disorder

About this section

Drugs & Therapeutics for Urea Cycle Disorder

About this section

Drug clinical trials:

Search ClinicalTrials for Urea Cycle Disorder

Search NIH Clinical Center for Urea Cycle Disorder

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Urea Cycle Disorder cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Urea Cycle Disorder:
Hepatocyte transplantation for treatment of liver failure and inherited metabolic diseases
Promethera
Embryonic/Adult Cultured Cells Related to Urea Cycle Disorder:
Hepatocytes
Adult liver progenitor cells, PMIDs: 22525602, 23211283, 19091822, 24142276, 22900053

Genetic Tests for Urea Cycle Disorder

About this section

Genetic tests related to Urea Cycle Disorder:

id Genetic test Affiliating Genes
1 Urea Cycle Disorders20
2 Disorder of the Urea Cycle Metabolism22

Anatomical Context for Urea Cycle Disorder

About this section

MalaCards organs/tissues related to Urea Cycle Disorder:

31
Brain, Liver

Animal Models for Urea Cycle Disorder or affiliated genes

About this section

MGI Mouse Phenotypes related to Urea Cycle Disorder:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.1NAGS, ASS1, ASL, OTC
2MP:00107718.0ASS1, OTC, ASL, NAGS
3MP:00053867.8ASS1, ASL, OTC, NAGS

Publications for Urea Cycle Disorder

About this section

Articles related to Urea Cycle Disorder:

(show all 45)
idTitleAuthorsYear
1
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder. (25503497)
2014
2
Late-onset urea cycle disorder in adulthood unmasked by severe malnutrition. (24985015)
2014
3
Diagnosis and treatment of urea cycle disorder in Japan. (25039902)
2014
4
Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. (24136197)
2013
5
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. (22961727)
2013
6
Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio. (24144944)
2013
7
Urea cycle disorder drug approved. (23563410)
2013
8
Gene therapy for metabolic disorders: an overview with a focus on urea cycle disorders. (22403018)
2012
9
Idiopathic proximal urea cycle disorder presenting as severe pulmonary hypertension in a neonate--a case report. (22685855)
2012
10
Coma, hyperammonemia, metabolic acidosis, and mutation: lessons learned in the acute management of late onset urea cycle disorders. (22099885)
2012
11
Lysinuric protein intolerance (LPI): a multi organ disease by far more complex than a classic urea cycle disorder. (22402328)
2012
12
Urea cycle disorder--argininosuccinic lyase deficiency. (22784324)
2012
13
Misdiagnosed postpartum psychosis revealing a late-onset urea cycle disorder. (21642480)
2011
14
Neuropsychiatric manifestations in late-onset urea cycle disorder patients. (19684305)
2010
15
Clinical and biochemical characteristics of patients with urea cycle disorders in a developing country. (20025860)
2010
16
Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders. (20142522)
2010
17
New insights in nutritional management and amino acid supplementation in urea cycle disorders. (20299258)
2010
18
Carglumic acid: a second look. Confirmed progress in a rare urea cycle disorder. (18516804)
2008
19
Hypothesis: proposals for the management of a neonate at risk of hyperammonaemia due to a urea cycle disorder. (17436013)
2008
20
Adult onset urea cycle disorder in a patient with presumed hepatic encephalopathy. (18209596)
2008
21
Cross-sectional multicenter study of patients with urea cycle disorders in the United States. (18562231)
2008
22
Extensive cortical magnetic resonance signal change in proximal urea cycle disorder. (17621492)
2007
23
Presentation of an acquired urea cycle disorder post liver transplantation. (18044746)
2007
24
Usefulness of magnetic resonance spectroscopy in urea cycle disorders. (17765814)
2007
25
Urea cycle disorders in adult patients]. (18033025)
2007
26
Autistic-like findings associated with a urea cycle disorder in a 4-year-old girl. (15798789)
2005
27
Considerations in the difficult-to-manage urea cycle disorder patient. (16227112)
2005
28
Brain glutamine by MRS in a patient with urea cycle disorder and coma. (15664780)
2005
29
Current role of liver transplantation for the treatment of urea cycle disorders: a review of the worldwide English literature and 13 cases at Kyoto University. (16237708)
2005
30
Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients. (15050979)
2004
31
Isolated hepatocyte transplantation in an infant with a severe urea cycle disorder. (12777539)
2003
32
Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder. (12948741)
2003
33
Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders. (12812952)
2003
34
Urea cycle disorders in Thai infants: a report of 5 cases. (12403252)
2002
35
Long-term correction of urea cycle disorders. (11148551)
2001
36
Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan. (9686352)
1998
37
Nucleotide pool imbalances in the livers of patients with urea cycle disorders associated with increased levels of orotic aciduria. (7773204)
1995
38
Molecular basis of urea cycle disorders]. (8464164)
1993
39
Plasma glutamine concentration: a guide in the management of urea cycle disorders. (1640294)
1992
40
Retrospective survey of urea cycle disorders: Part 1. Clinical and laboratory observations of thirty-two Japanese male patients with ornithine transcarbamylase deficiency. (2012137)
1991
41
Prospective treatment of urea cycle disorders. (1720458)
1991
42
A case study: urea cycle disorder. (1886557)
1991
43
Urea cycle disorder in C3H-H-2 degree mice with juvenile steatosis of viscera. (2298291)
1990
44
Molecular basis of enzyme abnormalities in urea cycle disorders. With special reference to citrullinemia and argininosuccinic aciduria. (3440446)
1987
45
Ornithine methyl ester. An unusual metabolite encountered in the urine of patients with a urea cycle disorder characterized by hyperammonemia, hyperornithinemia and homocitrullinuria. (862180)
1977

Variations for Urea Cycle Disorder

About this section

Expression for genes affiliated with Urea Cycle Disorder

About this section
Search GEO for disease gene expression data for Urea Cycle Disorder.

Pathways for genes affiliated with Urea Cycle Disorder

About this section

Pathways related to Urea Cycle Disorder according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1ASS1, ASL
29.1ASL, ASS1
3
Show member pathways
glutamate biosynthesis II36
arginine biosynthesis IV36
8.5ASS1, ASL, OTC
4
Show member pathways
citrulline-nitric oxide cycle36
arginine degradation I (arginase pathway)36
proline degradation36
glutamine degradation I36
proline biosynthesis I36
superpathway of citrulline metabolism36
proline biosynthesis II (from arginine)36
citrulline biosynthesis36
arginine degradation VI (arginase 2 pathway)36
Urea cycle and metabolism of amino groups36
asparagine biosynthesis I36
4-hydroxyproline degradation I36
citrulline degradation36
8.1ASS1, NAGS, ASL, OTC
5
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
8.1ASL, ASS1, NAGS, OTC
6
Show member pathways
creatine-phosphate biosynthesis36
glycine degradation (creatine biosynthesis)36
putrescine biosynthesis III36
spermidine biosynthesis I36
tryptophan degradation via kynurenine36
spermine biosynthesis36
urea cycle36
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I36
tyrosine degradation I36
L-carnitine biosynthesis36
methylthiopropionate biosynthesis36
2-oxoglutarate decarboxylation to succinyl-CoA36
S-methyl-5-thioadenosine degradation II36
7.1NAGS, ASS1, ASL, SLC25A2, SLC25A15, OTC
7
Show member pathways
7.1SLC25A2, OTC, ASS1, NAGS, SLC25A15, ASL

Compounds for genes affiliated with Urea Cycle Disorder

About this section
Sources:
43Novoseek, 24HMDB, 49PharmGKB, 28IUPHAR, 12DrugBank, 2BitterDB
See all sources

Compounds related to Urea Cycle Disorder according to GeneCards Suite gene sharing:

(show all 25)
idCompoundScoreTop Affiliating Genes
1benzoate439.7NAGS, OTC
2Canavaninosuccinate249.4ASS1, ASL
3argininosuccinic acid43 2410.4ASL, ASS1
4guanidinoacetate439.4ASL, ASS1
5malate439.3ASL, OTC
6sodium phenylbutyrate499.3ASS1, OTC
7delta(1)pyrroline-5-carboxylate439.3ASS1, OTC
8l-arginine28 24 1211.3ASL, ASS1
9n-acetylglutamate439.3OTC, ASL, NAGS
10l-citrulline28 1210.3ASS1, OTC
11l-ornithine28 1210.2SLC25A15, SLC25A2, OTC
12pyruvate439.0OTC, ASS1
13phosphoenolpyruvate43 129.9ASS1, OTC
14ammonium438.8ASL, OTC, ASS1
15citrulline43 249.8ASS1, ASL, OTC
16creatinine438.6ASS1, ASL, OTC
17aspartate438.6OTC, ASL, ASS1
18sodium benzoate49 29.5OTC, ASL, ASS1, NAGS
19phenylacetic acid49 43 2410.5OTC, NAGS, ASL, ASS1
20carbamoyl phosphate438.5OTC, ASL, ASS1, NAGS
21arginine438.3NAGS, ASS1, OTC, ASL
22glutamate438.3ASL, ASS1, NAGS, OTC
23nitric oxide43 24 1210.2OTC, ASS1, ASL
24urea43 24 1210.0NAGS, ASS1, SLC25A15, ASL, OTC
25ornithine43 248.5ASL, ASS1, NAGS, SLC25A2, SLC25A15, OTC

GO Terms for genes affiliated with Urea Cycle Disorder

About this section

Cellular components related to Urea Cycle Disorder according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00057599.4OTC, NAGS
2mitochondrial inner membraneGO:00057438.6OTC, SLC25A15, SLC25A2

Biological processes related to Urea Cycle Disorder according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1arginine biosynthetic processGO:00065268.3NAGS, ASS1, OTC
2urea cycleGO:00000507.1OTC, NAGS, ASS1, ASL, SLC25A2, SLC25A15
3small molecule metabolic processGO:00442817.1ASS1, ASL, SLC25A2, SLC25A15, OTC, NAGS
4cellular nitrogen compound metabolic processGO:00346417.0NAGS, ASS1, ASL, SLC25A2, SLC25A15, OTC

Products for genes affiliated with Urea Cycle Disorder

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Urea Cycle Disorder

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet