Open AccessA rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency
Author(s) -
Asburçe Olgaç,
Çiğdem Seher Kasapkara,
Mustafa Kılıç,
Betül Emine Derinkuyu,
Ebru Azapağası,
Selman Kesici,
Gürsel Biberoğlu,
Ahmet Özyazıcı,
Meryem Karaca,
Johannes Häberle
Publication year - 2020
Publication title -
archivos argentinos de pediatría
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.236
H-Index - 19
eISSN - 1668-3501
pISSN - 0325-0075
DOI - 10.5546/aap.2020.eng.e545
Subject(s) - hyperammonemia , urea cycle , medicine , urea , metabolic disorder , endocrinology , pediatrics , chemistry , biochemistry , arginine , amino acid
Urea cycle disorders (UCD), are genetically inherited diseases that may have a poor outcome due to to profound hyperammonemia. We report the case of a baby girl diagnosed as N-acetylglutamate synthase (NAGS) deficiency. The patient was evaluated due to diminished sucking and hypotonicity. Physical examination showed hepatomegaly. Complete blood count, biochemical values and blood gas analyses were normal, acute phase reactants were negative. Further laboratory analyses showed no ketones in blood and highly elevated ammonia. Metabolic tests were inconclusive. Emergency treatment was initiated immediately and she was discharged on the 15th day of admission. NAGS deficiency was confirmed by DNA-analysis. She is now without any dietary restriction or other medication, except N-carbamylglutamate (NCG). NAGS deficiency is the only UCD which can be specifically and effectively treated by NCG. Early recognition of disease will lead to early treatment that may prohibit devastating effects of hyperammonemia.