UCD
MCID: URC002
MIFTS: 52

Urea Cycle Disorder (UCD) malady

Genetic diseases, Rare diseases, Metabolic diseases, Endocrine diseases categories
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Summaries for Urea Cycle Disorder

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NIH Rare Diseases:42 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 disorder of urea cycle metabolism, is related to argininosuccinic aciduria and carbamoyl phosphate synthetase i deficiency disease. 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, thyroid and liver, and related mouse phenotypes are growth/size/body and integument.

Disease Ontology:8 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:65 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

Aliases & Classifications for Urea Cycle Disorder

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Urea Cycle Disorder, Aliases & Descriptions:

Name: Urea Cycle Disorder 30 8 10
Disorder of Urea Cycle Metabolism 8 22 62
Urea Cycle Disorders 19 42 20
Disorder of Metabolism of Ornithine, Citrulline, Argininosuccinic Acid, Arginine and Ammonia 8
 
Thyroid Hormone Plasma Membrane Transport Defect 62
Urea Cycle Disorders, Inborn 62
Urea Cycle Defect 8
Ucd 42


Classifications:



External Ids:

Disease Ontology8 DOID:9267
MeSH34 D056806
NCIt39 C84785
SNOMED-CT57 36444000
ICD9CM27 270.6
ICD1025 E72.2

Related Diseases for Urea Cycle Disorder

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



Diseases related to urea cycle disorder

Symptoms for Urea Cycle Disorder

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Drugs & Therapeutics for Urea Cycle Disorder

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Drug clinical trials:

Search ClinicalTrials for Urea Cycle Disorder

Search NIH Clinical Center for Urea Cycle Disorder

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
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

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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

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MalaCards organs/tissues related to Urea Cycle Disorder:

32
Brain, Thyroid, Liver

Animal Models for Urea Cycle Disorder or affiliated genes

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MGI Mouse Phenotypes related to Urea Cycle Disorder:

36
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

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Articles related to Urea Cycle Disorder:

(show all 43)
idTitleAuthorsYear
1
Late-onset urea cycle disorder in adulthood unmasked by severe malnutrition. (24985015)
2014
2
Diagnosis and treatment of urea cycle disorder in Japan. (25039902)
2014
3
Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. (24136197)
2013
4
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. (22961727)
2013
5
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
6
Urea cycle disorder drug approved. (23563410)
2013
7
Gene therapy for metabolic disorders: an overview with a focus on urea cycle disorders. (22403018)
2012
8
Idiopathic proximal urea cycle disorder presenting as severe pulmonary hypertension in a neonate--a case report. (22685855)
2012
9
Coma, hyperammonemia, metabolic acidosis, and mutation: lessons learned in the acute management of late onset urea cycle disorders. (22099885)
2012
10
Lysinuric protein intolerance (LPI): a multi organ disease by far more complex than a classic urea cycle disorder. (22402328)
2012
11
Urea cycle disorder--argininosuccinic lyase deficiency. (22784324)
2012
12
Misdiagnosed postpartum psychosis revealing a late-onset urea cycle disorder. (21642480)
2011
13
Neuropsychiatric manifestations in late-onset urea cycle disorder patients. (19684305)
2010
14
Clinical and biochemical characteristics of patients with urea cycle disorders in a developing country. (20025860)
2010
15
Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders. (20142522)
2010
16
New insights in nutritional management and amino acid supplementation in urea cycle disorders. (20299258)
2010
17
Carglumic acid: a second look. Confirmed progress in a rare urea cycle disorder. (18516804)
2008
18
Hypothesis: proposals for the management of a neonate at risk of hyperammonaemia due to a urea cycle disorder. (17436013)
2008
19
Adult onset urea cycle disorder in a patient with presumed hepatic encephalopathy. (18209596)
2008
20
Cross-sectional multicenter study of patients with urea cycle disorders in the United States. (18562231)
2008
21
Extensive cortical magnetic resonance signal change in proximal urea cycle disorder. (17621492)
2007
22
Presentation of an acquired urea cycle disorder post liver transplantation. (18044746)
2007
23
Urea cycle disorders in adult patients]. (18033025)
2007
24
Autistic-like findings associated with a urea cycle disorder in a 4-year-old girl. (15798789)
2005
25
Considerations in the difficult-to-manage urea cycle disorder patient. (16227112)
2005
26
Brain glutamine by MRS in a patient with urea cycle disorder and coma. (15664780)
2005
27
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
28
Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients. (15050979)
2004
29
Isolated hepatocyte transplantation in an infant with a severe urea cycle disorder. (12777539)
2003
30
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
31
Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders. (12812952)
2003
32
Urea cycle disorders in Thai infants: a report of 5 cases. (12403252)
2002
33
Long-term correction of urea cycle disorders. (11148551)
2001
34
Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan. (9686352)
1998
35
Nucleotide pool imbalances in the livers of patients with urea cycle disorders associated with increased levels of orotic aciduria. (7773204)
1995
36
Molecular basis of urea cycle disorders]. (8464164)
1993
37
Plasma glutamine concentration: a guide in the management of urea cycle disorders. (1640294)
1992
38
Retrospective survey of urea cycle disorders: Part 1. Clinical and laboratory observations of thirty-two Japanese male patients with ornithine transcarbamylase deficiency. (2012137)
1991
39
Prospective treatment of urea cycle disorders. (1720458)
1991
40
A case study: urea cycle disorder. (1886557)
1991
41
Urea cycle disorder in C3H-H-2 degree mice with juvenile steatosis of viscera. (2298291)
1990
42
Molecular basis of enzyme abnormalities in urea cycle disorders. With special reference to citrullinemia and argininosuccinic aciduria. (3440446)
1987
43
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

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Expression for genes affiliated with Urea Cycle Disorder

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Expression patterns in normal tissues for genes affiliated with Urea Cycle Disorder

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Pathways for genes affiliated with Urea Cycle Disorder

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Pathways related to Urea Cycle Disorder according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1ASS1, ASL
29.1ASL, ASS1
3
Show member pathways
glutamate biosynthesis II37
arginine biosynthesis IV37
8.5ASS1, ASL, OTC
4
Show member pathways
citrulline-nitric oxide cycle37
arginine degradation I (arginase pathway)37
proline degradation37
glutamine degradation I37
proline biosynthesis I37
superpathway of citrulline metabolism37
proline biosynthesis II (from arginine)37
citrulline biosynthesis37
arginine degradation VI (arginase 2 pathway)37
Urea cycle and metabolism of amino groups37
asparagine biosynthesis I37
4-hydroxyproline degradation I37
citrulline degradation37
8.1ASS1, NAGS, ASL, OTC
5
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
8.1ASL, ASS1, NAGS, OTC
6
Show member pathways
creatine-phosphate biosynthesis37
glycine degradation (creatine biosynthesis)37
putrescine biosynthesis III37
spermidine biosynthesis I37
tryptophan degradation via kynurenine37
spermine biosynthesis37
urea cycle37
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I37
tyrosine degradation I37
L-carnitine biosynthesis37
methylthiopropionate biosynthesis37
2-oxoglutarate decarboxylation to succinyl-CoA37
S-methyl-5-thioadenosine degradation II37
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

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Sources:
44Novoseek, 24HMDB, 50PharmGKB, 28IUPHAR, 11DrugBank, 2BitterDB
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Compounds related to Urea Cycle Disorder according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1benzoate449.7NAGS, OTC
2Canavaninosuccinate249.4ASS1, ASL
3argininosuccinic acid44 2410.4ASL, ASS1
4guanidinoacetate449.4ASL, ASS1
5malate449.3ASL, OTC
6sodium phenylbutyrate509.3ASS1, OTC
7delta(1)pyrroline-5-carboxylate449.3ASS1, OTC
8l-arginine28 24 1111.3ASL, ASS1
9n-acetylglutamate449.3OTC, ASL, NAGS
10l-citrulline28 1110.3ASS1, OTC
11l-ornithine28 1110.2SLC25A15, SLC25A2, OTC
12pyruvate449.0OTC, ASS1
13phosphoenolpyruvate44 119.9ASS1, OTC
14ammonium448.8ASL, OTC, ASS1
15citrulline44 249.8ASS1, ASL, OTC
16creatinine448.6ASS1, ASL, OTC
17aspartate448.6OTC, ASL, ASS1
18sodium benzoate50 29.5OTC, ASL, ASS1, NAGS
19phenylacetic acid50 44 2410.5OTC, NAGS, ASL, ASS1
20carbamoyl phosphate448.5OTC, ASL, ASS1, NAGS
21arginine448.3NAGS, ASS1, OTC, ASL
22glutamate448.3ASL, ASS1, NAGS, OTC
23nitric oxide44 24 1110.2OTC, ASS1, ASL
24urea44 24 1110.0NAGS, ASS1, SLC25A15, ASL, OTC
25ornithine44 248.5ASL, ASS1, NAGS, SLC25A2, SLC25A15, OTC

GO Terms for genes affiliated with Urea Cycle Disorder

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Cellular components related to Urea Cycle Disorder according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:0057599.4OTC, NAGS
2mitochondrial inner membraneGO:0057438.6OTC, SLC25A15, SLC25A2

Biological processes related to Urea Cycle Disorder according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1arginine biosynthetic processGO:0065268.3NAGS, ASS1, OTC
2urea cycleGO:0000507.1OTC, NAGS, ASS1, ASL, SLC25A2, SLC25A15
3small molecule metabolic processGO:0442817.1ASS1, ASL, SLC25A2, SLC25A15, OTC, NAGS
4cellular nitrogen compound metabolic processGO:0346417.0NAGS, ASS1, ASL, SLC25A2, SLC25A15, OTC

Products for genes affiliated with Urea Cycle Disorder

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  • Antibodies
  • Proteins
  • Lysates

Sources for Urea Cycle Disorder

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet