NAGSD
MCID: NCT003
MIFTS: 35

N-Acetylglutamate Synthase Deficiency (NAGSD) 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 52 48 24 25 70 12
Nags Deficiency 48 24 25 54 70 50
Hyperammonemia, Type Iii 25 27 68
Hyperammonemia Due to N-Acetylglutamate Synthetase Deficiency 48 70
N-Acetylglutamate Synthetase Deficiency 25 70
 
Hyperammonemia Due to N-Acetylglutamate Synthase Deficiency 54
N-Acetyl Glutamate Synthetase Deficiency 48
N-Acetylglutamate Synthase 12
Nag Synthetase Deficiency 48
Nagsd 70

Characteristics:

Orphanet epidemiological data:

54
nags deficiency:
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age

HPO:

64
n-acetylglutamate synthase deficiency:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 237310
Orphanet54 ORPHA927
ICD10 via Orphanet31 E72.2
MedGen37 C0268543
MeSH39 D056806

Summaries for N-Acetylglutamate Synthase Deficiency

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NIH Rare Diseases:48 N-acetylglutamate synthase deficiency (nags) is type of metabolic disorder that affects the processing of proteins and removal of ammonia from the body. when proteins are processed by the body, ammonia is formed. individuals with nags are not able to remove ammonia from the body and have symptoms due to toxic levels of ammonia that build up in the blood. nags and other similar disorders are a type of metabolic condition known as a urea cycle disorder.  signs and symptoms in newborns with nags 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. nags is caused by mutations in the nags gene and is inherited in an autosomal recessive fashion. treatment may include maintaining a low protein diet and using medications that provide alternative routes to remove ammonia from the body. last updated: 4/12/2017

MalaCards based summary: N-Acetylglutamate Synthase Deficiency, also known as nags deficiency, is related to aspartylglucosaminuria and hyperammonemia, and has symptoms including lethargy, lethargy and seizures. An important gene associated with N-Acetylglutamate Synthase Deficiency is NAGS (N-Acetylglutamate Synthase). Related mouse phenotype Dynamic nuclei (hole, folded or small irregular).

UniProtKB/Swiss-Prot:70 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.

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

Wikipedia:71 Carbamoyl Phosphate synthase (or synthetase) I 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 disease9.6NAGS, SLC13A3, SLC22A6

Symptoms & Phenotypes 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:

 64 (show all 10)
id Description HPO Frequency HPO Source Accession
1 aggressive behavior64 HP:0000718
2 seizures64 HP:0001250
3 lethargy64 HP:0001254
4 coma64 HP:0001259
5 confusion64 HP:0001289
6 failure to thrive64 HP:0001508
7 hyperammonemia64 HP:0001987
8 vomiting64 HP:0002013
9 respiratory distress64 HP:0002098
10 cognitive impairment64 HP:0100543

UMLS symptoms related to N-Acetylglutamate Synthase Deficiency:


lethargy, seizures, respiratory distress, vomiting, recurrent

GenomeRNAi Phenotypes related to N-Acetylglutamate Synthase Deficiency according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00257-A-18.5NAGS, SLC13A3, SLC22A6

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 2228
2Vaccines6611

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 Iii27
2 N-Acetylglutamate Synthase Deficiency24 NAGS

Anatomical Context for N-Acetylglutamate Synthase Deficiency

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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
Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency. (27147233)
2016
2
N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra. (27570737)
2016
3
A commentary on short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency. (25994872)
2015
4
Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency. (25787344)
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
N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment. (23776373)
2011
9
Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency. (21941437)
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:

70
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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Biological processes related to N-Acetylglutamate Synthase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transmembrane transportGO:00550859.1SLC13A3, SLC22A6

Sources for N-Acetylglutamate Synthase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet