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hyperammonemia due to N-acetylglutamate synthase deficiency | RareConnect | RareConnect.io

/urea cycle disorder or inherited hyperammonemia

/hyperammonemia due to N-acetylglutamate synthase deficiency

hyperammonemia due to N-acetylglutamate synthase deficiency

Rare Disease

MONDO:0009377

Also Known As

NAGS deficiencyhyperammonemia due to N-acetylglutamate synthase deficiencyN-acetyl glutamate synthetase deficiencyN-acetylglutamate synthase deficiencyN-acetylglutamate synthetase deficiencyNAG synthetase deficiencyNAGSDNags deficiencyhyperammonemia due to N-acetylglutamate synthetase deficiency

Definition

N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:237310 ↗

Orphanet

Orphanet:927 ↗

GARD

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