N-Acetylglutamate Synthase Deficiency (NAGSD)

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OMIM® 57 237310 KEGG 36 H01032 MeSH 44 D056806 ICD10 via Orphanet 33 E72.2 UMLS via Orphanet 72 C0268543

Orphanet 58 ORPHA927 MedGen 41 C0268543 SNOMED-CT via HPO 68 109995007 128613002 128623006 188736006 18963009 193462001 214264003 224958001 230145002 230690007 2359002 24199005 246545002 248004009 248274002 249497008 25064002 258211005 267036007 267060006 271611007 271782001 271825005 286933003 287731003 300359004 302226006 313307000 36440009 371632003 386806002 389100007 418107008 419045004 422400008 422587007 42345000 42658009 432788009 48694002 5507002 60389000 61372001 62315008 64379006 64712007 78164000 79519003 80515008 81308009 84229001 84328007 84757009 85102008 91175000 9360008 more UMLS 71 C0268543

MedlinePlus Genetics : ⁴³ 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, lethargy and respiratory distress. An important gene associated with N-Acetylglutamate Synthase Deficiency is NAGS (N-Acetylglutamate Synthase), and among its related pathways/superpathways is Arginine biosynthesis. The drug carbamide peroxide has been mentioned in the context of this disorder. Affiliated tissues include liver, and related phenotypes are vomiting and infantile muscular hypotonia

GARD : ²⁰ 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® : ⁵⁷ 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) (Updated 05-Mar-2021)

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...

Clinical features from OMIM®:

237310 (Updated 05-Mar-2021)

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