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GTR Home > Conditions/Phenotypes > Hyperammonemia, type III

Hyperammonemia, type III

Synonyms
Hyperammonemia due to N-acetylglutamate synthase deficiency; N-Acetylglutamate Synthase Deficiency; NAG synthetase deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

N-acetylglutamate synthase deficiency (NAGSD) 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). [from OMIM]

Available tests

57 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (57 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AGAS, ARGA, NAGS
    Summary: N-acetylglutamate synthase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Decreased Citrulline, 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Decreased Citrulline, 2022
  • ACMG ACT, 2012
    American College of Medical Genetics and Genomics, Transition to Adult Health Care ACT Sheet, N-Acetylglutamate Synthase (NAGS) Deficiency, 2012

Molecular resources

Consumer resources

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