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Hyperammonemia due to N-acetylglutamate synthase deficiency

MONDO:0009377

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

Also known as: NAGS deficiency, hyperammonemia due to N-acetylglutamate synthase deficiency, N-acetyl glutamate synthetase deficiency, N-acetylglutamate synthase deficiency, N-acetylglutamate synthetase deficiency, NAG synthetase deficiency, NAGSD, Nags deficiency

5 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Inborn errors of metabolism (45) Human disease (14) Urea cycle disorder (12) Inborn disorder of amino acid metabolism (4) Disease of genetic or genomic mechanism (2) Amino acid metabolism disease (1) Disease by developmental or physiological process (0)
Trials to join now! 4 Not yet finished but already full! 1
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    Diagnosis Ongoing

    This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

    Sponsor: RTI International • Aim: Diagnosis

    Last updated Jul 03, 2026 00:00 UTC

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