MCID: NCT003
MIFTS: 33

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 50 23 24 68 12
Nags Deficiency 46 23 24 52 68 48
N-Acetylglutamate Synthetase Deficiency 46 24 68
Hyperammonemia, Type Iii 24 25 66
Hyperammonemia Due to N-Acetylglutamate Synthetase Deficiency 46 68
 
Hyperammonemia Due to N-Acetylglutamate Synthase Deficiency 52
N-Acetyl Glutamate Synthetase Deficiency 46
N-Acetylglutamate Synthase 12
Nag Synthetase Deficiency 46
Nagsd 68

Characteristics:

Orphanet epidemiological data:

52
nags deficiency:
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age

HPO:

62
n-acetylglutamate synthase deficiency:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 237310
Orphanet52 ORPHA927
ICD10 via Orphanet29 E72.2
MedGen35 C0268543
MeSH37 D056806

Summaries for N-Acetylglutamate Synthase Deficiency

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NIH Rare Diseases:46 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 lethargy, lethargy and seizures. An important gene associated with N-Acetylglutamate Synthase Deficiency is NAGS (N-Acetylglutamate Synthase).

UniProtKB/Swiss-Prot:68 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:24 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:50 N-acetylglutamate synthase deficiency is an autosomal recessive disorder of the urea cycle. The clinical and... (237310) more...

Wikipedia:69 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
1aspartylglucosaminuria11.1
2hyperammonemia10.4
3encephalopathy10.4
4caffey disease8.9NAGS, SLC13A3, SLC22A6

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 10)
id Description Frequency HPO Source Accession
1 aggressive behavior HP:0000718
2 seizures HP:0001250
3 lethargy HP:0001254
4 coma HP:0001259
5 confusion HP:0001289
6 failure to thrive HP:0001508
7 hyperammonemia HP:0001987
8 vomiting HP:0002013
9 respiratory distress HP:0002098
10 cognitive impairment 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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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 Iii25
2 N-Acetylglutamate Synthase Deficiency23 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:

68
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
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 variantPathogenicrs730880267GRCh38Chr 17, 44006527: 44006527
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

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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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet