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

Aliases & Descriptions for N-Acetylglutamate Synthase Deficiency:

Name: N-Acetylglutamate Synthase Deficiency 54 50 24 25 66 13
Nags Deficiency 50 24 25 56 66 52
Hyperammonemia, Type Iii 25 29 69
Hyperammonemia Due to N-Acetylglutamate Synthetase Deficiency 50 66
N-Acetylglutamate Synthetase Deficiency 25 66
Hyperammonemia Due to N-Acetylglutamate Synthase Deficiency 56
N-Acetyl Glutamate Synthetase Deficiency 50
N-Acetylglutamate Synthase 13
Nag Synthetase Deficiency 50
Nagsd 66

Characteristics:

Orphanet epidemiological data:

56
hyperammonemia due to n-acetylglutamate synthase deficiency
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age;

HPO:

32
n-acetylglutamate synthase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Inborn errors of metabolism


External Ids:

OMIM 54 237310
Orphanet 56 ORPHA927
ICD10 via Orphanet 34 E72.2
MedGen 40 C0268543
MeSH 42 D056806

Summaries for N-Acetylglutamate Synthase Deficiency

NIH Rare Diseases : 50 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 seizures, vomiting and respiratory distress. An important gene associated with N-Acetylglutamate Synthase Deficiency is NAGS (N-Acetylglutamate Synthase). The drugs Glutamic Acid and Vaccines have been mentioned in the context of this disorder. Related phenotype is Dynamic nuclei (hole, folded or small irregular).

UniProtKB/Swiss-Prot : 66 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 : 54 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... more...

Related Diseases for N-Acetylglutamate Synthase Deficiency

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

id Related Disease Score Top Affiliating Genes
1 aspartylglucosaminuria 10.9
2 hyperammonemia 10.3
3 encephalopathy 10.2
4 caffey disease 9.6 NAGS SLC13A3 SLC22A6

Symptoms & Phenotypes for N-Acetylglutamate Synthase Deficiency

Symptoms by clinical synopsis from OMIM:

237310

Clinical features from OMIM:

237310

Human phenotypes related to N-Acetylglutamate Synthase Deficiency:

32 (show all 10)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 vomiting 32 HP:0002013
3 respiratory distress 32 HP:0002098
4 lethargy 32 HP:0001254
5 failure to thrive 32 HP:0001508
6 cognitive impairment 32 HP:0100543
7 coma 32 HP:0001259
8 aggressive behavior 32 HP:0000718
9 hyperammonemia 32 HP:0001987
10 confusion 32 HP:0001289

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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Dynamic nuclei (hole, folded or small irregular) GR00257-A-1 8.8 NAGS SLC13A3 SLC22A6

Drugs & Therapeutics for N-Acetylglutamate Synthase Deficiency

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Glutamic Acid Nutraceutical Phase 2
2 Vaccines

Interventional clinical trials:


id Name Status NCT ID Phase
1 Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia Terminated NCT01597440 Phase 2
2 The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity Terminated NCT01421888

Search NIH Clinical Center for N-Acetylglutamate Synthase Deficiency

Genetic Tests for N-Acetylglutamate Synthase Deficiency

Genetic tests related to N-Acetylglutamate Synthase Deficiency:

id Genetic test Affiliating Genes
1 Hyperammonemia, Type Iii 29
2 N-Acetylglutamate Synthase Deficiency 24 NAGS

Anatomical Context for N-Acetylglutamate Synthase Deficiency

Publications for N-Acetylglutamate Synthase Deficiency

Articles related to N-Acetylglutamate Synthase Deficiency:

(show all 19)
id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 NAGS p.Cys200Arg VAR_023505
2 NAGS p.Ala279Pro VAR_023506
3 NAGS p.Ser410Pro VAR_023507
4 NAGS p.Leu430Pro VAR_023508 rs104894605
5 NAGS p.Trp484Arg VAR_023509 rs104894606
6 NAGS p.Ala518Thr VAR_023510 rs745511282

ClinVar genetic disease variations for N-Acetylglutamate Synthase Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NAGS NM_153006.2(NAGS): c.1025delG (p.Arg342Profs) deletion Pathogenic rs730880266 GRCh38 Chromosome 17, 44006638: 44006638
2 NAGS NM_153006.2(NAGS): c.971G> A (p.Trp324Ter) single nucleotide variant Pathogenic rs104894604 GRCh37 Chromosome 17, 42083952: 42083952
3 NAGS NM_153006.2(NAGS): c.916-2A> T single nucleotide variant Pathogenic rs730880267 GRCh38 Chromosome 17, 44006527: 44006527
4 NAGS NM_153006.2(NAGS): c.1307dupT (p.Thr439Hisfs) duplication Pathogenic rs730880303 GRCh38 Chromosome 17, 44007629: 44007629
5 NAGS NM_153006.2(NAGS): c.835G> A (p.Ala279Thr) single nucleotide variant Pathogenic rs121912591 GRCh37 Chromosome 17, 42083525: 42083525
6 NAGS NM_153006.2(NAGS): c.1289T> C (p.Leu430Pro) single nucleotide variant Pathogenic rs104894605 GRCh37 Chromosome 17, 42084979: 42084979
7 NAGS NM_153006.2(NAGS): c.1450T> C (p.Trp484Arg) single nucleotide variant Pathogenic rs104894606 GRCh37 Chromosome 17, 42085140: 42085140
8 NAGS NM_153006.2(NAGS): c.1299G> C (p.Glu433Asp) single nucleotide variant Pathogenic rs104894607 GRCh37 Chromosome 17, 42084989: 42084989
9 NAGS NM_153006.2(NAGS): c.1323C> G (p.Tyr441Ter) single nucleotide variant Pathogenic rs886042831 GRCh37 Chromosome 17, 42085013: 42085013

Expression for N-Acetylglutamate Synthase Deficiency

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

Pathways for N-Acetylglutamate Synthase Deficiency

GO Terms for N-Acetylglutamate Synthase Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 8.62 SLC13A3 SLC22A6

Sources for N-Acetylglutamate Synthase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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