MCID: NCT003
MIFTS: 29

N-Acetylglutamate Synthase Deficiency malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Aliases & Classifications for N-Acetylglutamate Synthase Deficiency

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Sources:
45OMIM, 10diseasecard, 21Genetics Home Reference, 20GeneTests, 41NIH Rare Diseases, 47Orphanet, 43Novoseek, 22GTR, 60UMLS, 26ICD10 via Orphanet
See all sources

N-Acetylglutamate Synthase Deficiency, Aliases & Descriptions:

Name: N-Acetylglutamate Synthase Deficiency 45 10 21
Nags Deficiency 41 21 43 47
Hyperammonemia, Type Iii 21 22 60
Hyperammonemia Due to N-Acetylglutamate Synthetase Deficiency 41 47
 
N-Acetylglutamate Synthetase Deficiency 41 21
N-Acetylglutamate Synthase 10 20
N-Acetyl Glutamate Synthetase Deficiency 41
Nag Synthetase Deficiency 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
nags deficiency:
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age


External Ids:

OMIM45 237310
Orphanet47 927
ICD10 via Orphanet26 E72.2

Summaries for N-Acetylglutamate Synthase Deficiency

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NIH Rare Diseases:41 N-acetylglutamate synthase deficiency is type of urea cycle disorder. it causes toxic levels of ammonia to accumulate in the blood. signs and symptoms in newborns may include a lack of energy, unwillingness to eat, seizures, unusual body movements, and poorly controlled breathing or body temperature. complications may include coma, developmental delay, and learning disability. some people have a less severe form of the deficiency with earliest symptoms manifesting later in life, particularly following high-protein meals, illness, or other stress. signs and symptoms may include sudden vomiting, lack of coordination, confusion, and coma. n-acetylglutamate synthase deficiency is caused by mutations in the nags gene and is inherited in an autosomal recessive fashion. last updated: 12/17/2009

MalaCards based summary: N-Acetylglutamate Synthase Deficiency, also known as nags deficiency, is related to hepatitis and aspartylglucosaminuria, and has symptoms including autosomal recessive inheritance, aggressive behavior and seizures. An important gene associated with N-Acetylglutamate Synthase Deficiency is NAGS (N-acetylglutamate synthase).

Genetics Home Reference:21 N-acetylglutamate synthase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.

OMIM:45 N-acetylglutamate synthase deficiency is an autosomal recessive disorder of the urea cycle. The clinical and... (237310) more...

Wikipedia:63 N-Acetylglutamate synthase deficiency is an autosomal recessive urea cycle disorder. more...

Related Diseases for N-Acetylglutamate Synthase Deficiency

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Diseases related to N-Acetylglutamate Synthase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hepatitis10.3
2aspartylglucosaminuria10.2

Symptoms for N-Acetylglutamate Synthase Deficiency

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Symptoms by clinical synopsis from OMIM:

237310

Clinical features from OMIM:

237310

HPO human phenotypes related to N-Acetylglutamate Synthase Deficiency:

(show all 11)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 aggressive behavior HP:0000718
3 seizures HP:0001250
4 lethargy HP:0001254
5 coma HP:0001259
6 confusion HP:0001289
7 failure to thrive HP:0001508
8 hyperammonemia HP:0001987
9 vomiting HP:0002013
10 respiratory distress HP:0002098
11 cognitive impairment HP:0100543

Drugs & Therapeutics for N-Acetylglutamate Synthase Deficiency

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Drug clinical trials:

Search ClinicalTrials for N-Acetylglutamate Synthase Deficiency

Search NIH Clinical Center for N-Acetylglutamate Synthase Deficiency

Genetic Tests for N-Acetylglutamate Synthase Deficiency

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Genetic tests related to N-Acetylglutamate Synthase Deficiency:

id Genetic test Affiliating Genes
1 N-Acetylglutamate Synthase Deficiency20 NAGS
2 Hyperammonemia, Type Iii22

Anatomical Context for N-Acetylglutamate Synthase Deficiency

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Animal Models for N-Acetylglutamate Synthase Deficiency or affiliated genes

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Publications for N-Acetylglutamate Synthase Deficiency

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Articles related to N-Acetylglutamate Synthase Deficiency:

(show all 16)
idTitleAuthorsYear
1
Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency. (25787344)
2015
2
Transporters involved in renal excretion of N-carbamoylglutamate, an orphan drug to treat inborn N-acetylglutamate synthase deficiency. (25354943)
2014
3
Low Dose of Carglumic Acid for Treatment of Hyperammonemia due to N-Acetylglutamate Synthase Deficiency. (25228620)
2014
4
Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults. (23250120)
2013
5
Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency. (21941437)
2011
6
N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment. (23776373)
2011
7
Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency. (19533169)
2010
8
Polar body-based preimplantation genetic diagnosis for N-acetylglutamate synthase deficiency. (18753752)
2008
9
Misleading diagnosis of partial N-acetylglutamate synthase deficiency based on enzyme measurement corrected by mutation analysis. (15858972)
2005
10
Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles. (15714518)
2005
11
Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate. (15480384)
2004
12
Mutation analysis in patients with N-acetylglutamate synthase deficiency. (12754705)
2003
13
Diagnosis of N-acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense-mediated mRNA decay. (14605506)
2003
14
N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy. (12447942)
2002
15
A 6-year-old boy with hyperammonaemia: partial N-acetylglutamate synthase deficiency or portosystemic encephalopathy? (11131349)
2000
16
A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate. (7623444)
1995

Variations for N-Acetylglutamate Synthase Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for N-Acetylglutamate Synthase Deficiency:

62
id Symbol AA change Variation ID SNP ID
1NAGSp.Cys200ArgVAR_023505
2NAGSp.Ala279ProVAR_023506
3NAGSp.Ser410ProVAR_023507
4NAGSp.Leu430ProVAR_023508
5NAGSp.Trp484ArgVAR_023509
6NAGSp.Ala518ThrVAR_023510

Clinvar genetic disease variations for N-Acetylglutamate Synthase Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1NAGSNAGS, 1-BP DEL, 1025GdeletionPathogenic
2NAGSNM_153006.2(NAGS): c.971G> A (p.Trp324Ter)single nucleotide variantPathogenicrs104894604GRCh37Chr 17, 42083952: 42083952
3NAGSNAGS, IVS3AS, A-T, -2single nucleotide variantPathogenic
4NAGSNAGS, 1-BP INS, 1306TinsertionPathogenic
5NAGSNM_153006.2(NAGS): c.835G> A (p.Ala279Thr)single nucleotide variantPathogenicrs121912591GRCh37Chr 17, 42083525: 42083525
6NAGSNM_153006.2(NAGS): c.1289T> C (p.Leu430Pro)single nucleotide variantPathogenicrs104894605GRCh37Chr 17, 42084979: 42084979
7NAGSNM_153006.2(NAGS): c.1450T> C (p.Trp484Arg)single nucleotide variantPathogenicrs104894606GRCh37Chr 17, 42085140: 42085140
8NAGSNM_153006.2(NAGS): c.1299G> C (p.Glu433Asp)single nucleotide variantPathogenicrs104894607GRCh37Chr 17, 42084989: 42084989

Expression for genes affiliated with N-Acetylglutamate Synthase Deficiency

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Search GEO for disease gene expression data for N-Acetylglutamate Synthase Deficiency.

Pathways for genes affiliated with N-Acetylglutamate Synthase Deficiency

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Compounds for genes affiliated with N-Acetylglutamate Synthase Deficiency

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GO Terms for genes affiliated with N-Acetylglutamate Synthase Deficiency

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Products for genes affiliated with N-Acetylglutamate Synthase Deficiency

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  • Antibodies
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  • Lysates
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  • Proteins
  • Kits and Assays

Sources for N-Acetylglutamate Synthase Deficiency

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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