MCID: NCT003
MIFTS: 34

N-Acetylglutamate Synthase Deficiency malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for N-Acetylglutamate Synthase Deficiency

About this section

Aliases & Descriptions for N-Acetylglutamate Synthase Deficiency:

Name: N-Acetylglutamate Synthase Deficiency 49 11 22 23 67
Nags Deficiency 45 22 23 47 67
N-Acetylglutamate Synthetase Deficiency 45 23 67
Hyperammonemia, Type Iii 23 24 65
Hyperammonemia Due to N-Acetylglutamate Synthetase Deficiency 45 67
 
N-Acetyl Glutamate Synthetase Deficiency 45
N-Acetylglutamate Synthase 11
Nag Synthetase Deficiency 45
Nagsd 67

Characteristics:

HPO:

61
n-acetylglutamate synthase deficiency:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 237310
MedGen34 C0268543
MeSH36 D056806
UMLS65 C0268543

Summaries for N-Acetylglutamate Synthase Deficiency

About this section
NIH Rare Diseases:45 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 hyperammonemia due to n-acetylglutamate synthase deficiency and aspartylglucosaminuria, and has symptoms including cognitive impairment, respiratory distress and vomiting. An important gene associated with N-Acetylglutamate Synthase Deficiency is NAGS (N-Acetylglutamate Synthase), and among its related pathways is Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Affiliated tissues include testes.

Genetics Home Reference:23 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:49 N-acetylglutamate synthase deficiency is an autosomal recessive disorder of the urea cycle. The clinical and... (237310) more...

UniProtKB/Swiss-Prot:67 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:68 N-Acetylglutamate synthase (or synthetase) deficiency is an autosomal recessive urea cycle disorder. more...

Related Diseases for N-Acetylglutamate Synthase Deficiency

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1hyperammonemia due to n-acetylglutamate synthase deficiency12.5
2aspartylglucosaminuria11.1
3hyperammonemia10.4
4encephalopathy10.4
5osteogenesis imperfecta, type i8.9NAGS, SLC13A3, SLC22A6

Graphical network of diseases related to N-Acetylglutamate Synthase Deficiency:



Diseases related to n-acetylglutamate synthase deficiency

Symptoms for N-Acetylglutamate Synthase Deficiency

About this section

Symptoms by clinical synopsis from OMIM:

237310

Clinical features from OMIM:

237310

HPO human phenotypes related to N-Acetylglutamate Synthase Deficiency:

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

UMLS symptoms related to N-Acetylglutamate Synthase Deficiency:


vomiting, recurrent, respiratory distress, seizures, lethargy

Drugs & Therapeutics for N-Acetylglutamate Synthase Deficiency

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Glutamic AcidNutraceuticalPhase 2201
2Vaccines6085

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

About this section

Genetic tests related to N-Acetylglutamate Synthase Deficiency:

id Genetic test Affiliating Genes
1 N-Acetylglutamate Synthase Deficiency22 NAGS

Anatomical Context for N-Acetylglutamate Synthase Deficiency

About this section

MalaCards organs/tissues related to N-Acetylglutamate Synthase Deficiency:

33
Testes

Animal Models for N-Acetylglutamate Synthase Deficiency or affiliated genes

About this section

MGI Mouse Phenotypes related to N-Acetylglutamate Synthase Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for N-Acetylglutamate Synthase Deficiency

About this section

Articles related to N-Acetylglutamate Synthase Deficiency:

(show all 18)
idTitleAuthorsYear
1
Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency. (27147233)
2016
2
A commentary on short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency. (25994872)
2015
3
Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency. (25787344)
2015
4
Transporters involved in renal excretion of N-carbamoylglutamate, an orphan drug to treat inborn N-acetylglutamate synthase deficiency. (25354943)
2014
5
Low Dose of Carglumic Acid for Treatment of Hyperammonemia due to N-Acetylglutamate Synthase Deficiency. (25228620)
2014
6
Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults. (23250120)
2013
7
Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency. (21941437)
2011
8
N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment. (23776373)
2011
9
Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency. (19533169)
2010
10
Polar body-based preimplantation genetic diagnosis for N-acetylglutamate synthase deficiency. (18753752)
2008
11
Misleading diagnosis of partial N-acetylglutamate synthase deficiency based on enzyme measurement corrected by mutation analysis. (15858972)
2005
12
Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles. (15714518)
2005
13
Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate. (15480384)
2004
14
Mutation analysis in patients with N-acetylglutamate synthase deficiency. (12754705)
2003
15
Diagnosis of N-acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense-mediated mRNA decay. (14605506)
2003
16
N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy. (12447942)
2002
17
A 6-year-old boy with hyperammonaemia: partial N-acetylglutamate synthase deficiency or portosystemic encephalopathy? (11131349)
2000
18
A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate. (7623444)
1995

Variations for N-Acetylglutamate Synthase Deficiency

About this section

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

67
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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NM_153006.2(NAGS): c.1025delG (p.Arg342Profs)deletionPathogenicrs730880266GRCh38Chr 17, 44006638: 44006638
2NM_153006.2(NAGS): c.971G> A (p.Trp324Ter)single nucleotide variantPathogenicrs104894604GRCh37Chr 17, 42083952: 42083952
3NM_153006.2(NAGS): c.916-2A> Tsingle nucleotide variantPathogenicrs730880267GRCh37Chr 17, 42083895: 42083895
4NM_153006.2(NAGS): c.1307dupT (p.Thr439Hisfs)duplicationPathogenicrs730880303GRCh38Chr 17, 44007629: 44007629
5NM_153006.2(NAGS): c.835G> A (p.Ala279Thr)single nucleotide variantPathogenicrs121912591GRCh37Chr 17, 42083525: 42083525
6NM_153006.2(NAGS): c.1289T> C (p.Leu430Pro)single nucleotide variantPathogenicrs104894605GRCh37Chr 17, 42084979: 42084979
7NM_153006.2(NAGS): c.1450T> C (p.Trp484Arg)single nucleotide variantPathogenicrs104894606GRCh37Chr 17, 42085140: 42085140
8NM_153006.2(NAGS): c.1299G> C (p.Glu433Asp)single nucleotide variantPathogenicrs104894607GRCh37Chr 17, 42084989: 42084989

Expression for genes affiliated with N-Acetylglutamate Synthase Deficiency

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

Pathways for genes affiliated with N-Acetylglutamate Synthase Deficiency

About this section

GO Terms for genes affiliated with N-Acetylglutamate Synthase Deficiency

About this section

Sources for N-Acetylglutamate Synthase Deficiency

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet