MCID: NCT003
MIFTS: 34

N-Acetylglutamate Synthase Deficiency malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for N-Acetylglutamate Synthase Deficiency

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Aliases & Descriptions for N-Acetylglutamate Synthase Deficiency:

Name: N-Acetylglutamate Synthase Deficiency 51 24 25 69 12
Nags Deficiency 47 24 25 53 69 49
N-Acetylglutamate Synthetase Deficiency 47 25 69
Hyperammonemia, Type Iii 25 26 67
Hyperammonemia Due to N-Acetylglutamate Synthetase Deficiency 47 69
 
Hyperammonemia Due to N-Acetylglutamate Synthase Deficiency 53
N-Acetyl Glutamate Synthetase Deficiency 47
N-Acetylglutamate Synthase 12
Nag Synthetase Deficiency 47
Nagsd 69

Characteristics:

Orphanet epidemiological data:

53
nags deficiency:
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age

HPO:

63
n-acetylglutamate synthase deficiency:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 237310
Orphanet53 ORPHA927
ICD10 via Orphanet30 E72.2
MedGen36 C0268543
MeSH38 D056806

Summaries for N-Acetylglutamate Synthase Deficiency

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NIH Rare Diseases:47 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 aspartylglucosaminuria and hyperammonemia, and has symptoms including aggressive behavior, seizures and lethargy. An important gene associated with N-Acetylglutamate Synthase Deficiency is NAGS (N-Acetylglutamate Synthase).

Genetics Home Reference:25 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:51 N-acetylglutamate synthase deficiency is an autosomal recessive disorder of the urea cycle. The clinical and... (237310) more...

UniProtKB/Swiss-Prot:69 N-acetylglutamate synthase deficiency: Rare autosomal recessively inherited metabolic disorder leading to severe neonatal or late-onset hyperammonemia without increased excretion of orotic acid. Clinical symptoms are somnolence, tachypnea, feeding difficulties, a severe neurologic presentation characterized by uncontrollable movements, developmental delay, visual impairment, failure to thrive and hyperammonemia precipitated by the introduction of high-protein diet or febrile illness.

Wikipedia:70 N-Acetylglutamate synthase (or synthetase) 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
1aspartylglucosaminuria10.9
2hyperammonemia10.3
3encephalopathy10.2
4caffey disease9.0NAGS, SLC13A3, SLC22A6

Symptoms for N-Acetylglutamate Synthase Deficiency

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Symptoms by clinical synopsis from OMIM:

237310

Clinical features from OMIM:

237310

Human phenotypes related to N-Acetylglutamate Synthase Deficiency:

 63 (show all 10)
id Description HPO Frequency HPO Source Accession
1 aggressive behavior63 HP:0000718
2 seizures63 HP:0001250
3 lethargy63 HP:0001254
4 coma63 HP:0001259
5 confusion63 HP:0001289
6 failure to thrive63 HP:0001508
7 hyperammonemia63 HP:0001987
8 vomiting63 HP:0002013
9 respiratory distress63 HP:0002098
10 cognitive impairment63 HP:0100543

UMLS symptoms related to N-Acetylglutamate Synthase Deficiency:


lethargy, seizures, respiratory distress, vomiting, recurrent

Drugs & Therapeutics for N-Acetylglutamate Synthase Deficiency

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Drugs for N-Acetylglutamate Synthase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Glutamic AcidNutraceuticalPhase 2214
2Vaccines6428

Interventional clinical trials:

idNameStatusNCT IDPhase
1Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic AcidemiaTerminatedNCT01597440Phase 2
2The NIH UNI Study: Urea Cycle Disorders, Nutrition and ImmunityTerminatedNCT01421888

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 Hyperammonemia, Type Iii26
2 N-Acetylglutamate Synthase Deficiency24 NAGS

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 19)
idTitleAuthorsYear
1
N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra. (27570737)
2016
2
Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency. (27147233)
2016
3
Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency. (25787344)
2015
4
A commentary on short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency. (25994872)
2015
5
Transporters involved in renal excretion of N-carbamoylglutamate, an orphan drug to treat inborn N-acetylglutamate synthase deficiency. (25354943)
2014
6
Low Dose of Carglumic Acid for Treatment of Hyperammonemia due to N-Acetylglutamate Synthase Deficiency. (25228620)
2014
7
Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults. (23250120)
2013
8
Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency. (21941437)
2011
9
N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment. (23776373)
2011
10
Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency. (19533169)
2010
11
Polar body-based preimplantation genetic diagnosis for N-acetylglutamate synthase deficiency. (18753752)
2008
12
Misleading diagnosis of partial N-acetylglutamate synthase deficiency based on enzyme measurement corrected by mutation analysis. (15858972)
2005
13
Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles. (15714518)
2005
14
Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate. (15480384)
2004
15
Mutation analysis in patients with N-acetylglutamate synthase deficiency. (12754705)
2003
16
Diagnosis of N-acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense-mediated mRNA decay. (14605506)
2003
17
N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy. (12447942)
2002
18
A 6-year-old boy with hyperammonaemia: partial N-acetylglutamate synthase deficiency or portosystemic encephalopathy? (11131349)
2000
19
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:

69
id Symbol AA change Variation ID SNP ID
1NAGSp.Cys200ArgVAR_023505
2NAGSp.Ala279ProVAR_023506
3NAGSp.Ser410ProVAR_023507
4NAGSp.Leu430ProVAR_023508rs104894605
5NAGSp.Trp484ArgVAR_023509rs104894606
6NAGSp.Ala518ThrVAR_023510rs745511282

Clinvar genetic disease variations for N-Acetylglutamate Synthase Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NAGSNM_153006.2(NAGS): c.1025delG (p.Arg342Profs)deletionPathogenicrs730880266GRCh38Chr 17, 44006638: 44006638
2NAGSNM_153006.2(NAGS): c.971G> A (p.Trp324Ter)SNVPathogenicrs104894604GRCh37Chr 17, 42083952: 42083952
3NAGSNM_153006.2(NAGS): c.916-2A> TSNVPathogenicrs730880267GRCh38Chr 17, 44006527: 44006527
4NAGSNM_153006.2(NAGS): c.1307dupT (p.Thr439Hisfs)duplicationPathogenicrs730880303GRCh38Chr 17, 44007629: 44007629
5NAGSNM_153006.2(NAGS): c.835G> A (p.Ala279Thr)SNVPathogenicrs121912591GRCh37Chr 17, 42083525: 42083525
6NAGSNM_153006.2(NAGS): c.1289T> C (p.Leu430Pro)SNVPathogenicrs104894605GRCh37Chr 17, 42084979: 42084979
7NAGSNM_153006.2(NAGS): c.1450T> C (p.Trp484Arg)SNVPathogenicrs104894606GRCh37Chr 17, 42085140: 42085140
8NAGSNM_153006.2(NAGS): c.1299G> C (p.Glu433Asp)SNVPathogenicrs104894607GRCh37Chr 17, 42084989: 42084989
9NAGSNM_153006.2(NAGS): c.1323C> G (p.Tyr441Ter)SNVPathogenicrs886042831GRCh37Chr 17, 42085013: 42085013

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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GO Terms for genes affiliated with N-Acetylglutamate Synthase Deficiency

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Sources for N-Acetylglutamate Synthase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet