N-Acetylglutamate Synthase Deficiency malady
Categories: Genetic diseases, Rare diseases, Metabolic diseases
Aliases & Descriptions for N-Acetylglutamate Synthase Deficiency:
Orphanet epidemiological data:52
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age
n-acetylglutamate synthase deficiency:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Inborn errors of metabolism
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...
Diseases related to N-Acetylglutamate Synthase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:
HPO human phenotypes related to N-Acetylglutamate Synthase Deficiency:(show all 10)
UMLS symptoms related to N-Acetylglutamate Synthase Deficiency:lethargy, seizures, respiratory distress, vomiting, recurrent
Interventional clinical trials:
Search NIH Clinical Center for N-Acetylglutamate Synthase Deficiency
Articles related to N-Acetylglutamate Synthase Deficiency:(show all 19)
UniProtKB/Swiss-Prot genetic disease variations for N-Acetylglutamate Synthase Deficiency:68
Clinvar genetic disease variations for N-Acetylglutamate Synthase Deficiency:5
Search GEO for disease gene expression data for N-Acetylglutamate Synthase Deficiency.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet