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NAGSD
MCID: NCT003
MIFTS: 44
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N-Acetylglutamate Synthase Deficiency (NAGSD)
Categories:
Blood diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for N-Acetylglutamate Synthase Deficiency:
Characteristics:Orphanet epidemiological data:58
hyperammonemia due to n-acetylglutamate synthase deficiency
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
variable phenotype depending on residual enzyme activity patients with null mutations have neonatal onset within 72 hours of birth early onset patients are indistinguishable from those with carbamoyl phosphate synthetase i (cps1) deficiency patients with residual enzyme activity have childhood or adult onset can be effectively treated with n-carbamylglutamate HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Respiratory diseases Blood diseases
ICD10:
33
Orphanet: 58
Inborn errors of metabolism |
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Genetics Home Reference :
25
N-acetylglutamate synthase deficiency is a disorder that causes abnormally high levels of 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 brain is especially sensitive to the effects of excess ammonia.
The signs and symptoms of N-acetylglutamate synthase deficiency often become evident in the first few days of life. An infant with this condition may be lacking in energy (lethargic) or unwilling to eat, and have difficulty controlling his or her breathing rate or body temperature. Severely affected babies may experience seizures or unusual body movements, or go into a coma. Complications of N-acetylglutamate synthase deficiency may include developmental delay and intellectual disability.
In some affected individuals, signs and symptoms of N-acetylglutamate synthase deficiency do not appear until later in life. Some people with this form of the disorder notice that eating high-protein foods, such as meat, affects how they feel, although they may not know why. In many affected adults, illness or other stress can trigger episodes of vomiting, lack of coordination, headaches, confusion, behavioral changes, or coma.
MalaCards based summary : N-Acetylglutamate Synthase Deficiency, also known as nags deficiency, is related to aspartylglucosaminuria and carbonic anhydrase va deficiency, hyperammonemia due to, and has symptoms including seizures, respiratory distress and lethargy. An important gene associated with N-Acetylglutamate Synthase Deficiency is NAGS (N-Acetylglutamate Synthase), and among its related pathways/superpathways is Arginine biosynthesis. The drugs carbamide peroxide and Glutamic acid have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and testes, and related phenotypes are vomiting and infantile muscular hypotonia NIH Rare Diseases : 52 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. OMIM : 56 N-acetylglutamate synthase deficiency is an autosomal recessive disorder of the urea cycle. The clinical and biochemical features of the disorder are indistinguishable from carbamoyl phosphate synthase I deficiency (237300), since the CPS1 enzyme (608307) has an absolute requirement for NAGS (Caldovic et al., 2007). (237310) KEGG : 36 N-acetylglutamate synthase (NAGS) deficiency is a rare inborn error of metabolism affecting ammonia detoxification in the urea cycle. The N-acetylglutamate is the absolutely required allosteric activator of the first urea cycle enzyme carbamoylphosphate synthetase 1 (CPS1). In defects of NAGS, the urea cycle function can be severely affected resulting in fatal hyperammonemia in neonatal patients or at any later stage in life. Clinical features of NAGS deficiency include poor feeding, vomiting, altered level of consciousness, seizures, and coma. UniProtKB/Swiss-Prot : 73 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 : 74 N-Acetylglutamate synthase deficiency is an autosomal recessive urea cycle... more... |
Diseases related to N-Acetylglutamate Synthase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:(show all 17)
Graphical network of the top 20 diseases related to N-Acetylglutamate Synthase Deficiency:
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Human phenotypes related to N-Acetylglutamate Synthase Deficiency:58 31 (show all 44)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:237310UMLS symptoms related to N-Acetylglutamate Synthase Deficiency:seizures, respiratory distress, lethargy, vomiting, recurrent GenomeRNAi Phenotypes related to N-Acetylglutamate Synthase Deficiency according to GeneCards Suite gene sharing:26
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Drugs for N-Acetylglutamate Synthase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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MalaCards organs/tissues related to N-Acetylglutamate Synthase Deficiency:40
Brain,
Liver,
Testes
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Articles related to N-Acetylglutamate Synthase Deficiency:(show top 50) (show all 66)
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Genes/enhancers related to N-Acetylglutamate Synthase Deficiency (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for N-Acetylglutamate Synthase Deficiency:6 (show all 34)
UniProtKB/Swiss-Prot genetic disease variations for N-Acetylglutamate Synthase Deficiency:73
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Search
GEO
for disease gene expression data for N-Acetylglutamate Synthase Deficiency.
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Pathways related to N-Acetylglutamate Synthase Deficiency according to KEGG:36
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Biological processes related to N-Acetylglutamate Synthase Deficiency according to GeneCards Suite gene sharing:
Molecular functions related to N-Acetylglutamate Synthase Deficiency according to GeneCards Suite gene sharing:
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