A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency.

Olgac A; Kasapkara ÇS; Kilic M; Emine Derinkuyu B; Azapagasi E; Kesici S; Biberoğlu G; Ozyazici A; Karaca M; Haberle J

doi:10.5546/aap.2020.eng.e545

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Journal article

A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency.

Olgac A Division of Pediatric Metabolism, Dr. Sami Ulus Maternity and Children's Health and DiseasesTraining and Research Hospital, Ankara, Turkey. mabolgac@yahoo.com.
Kasapkara ÇS Division of Pediatric Metabolism, Dr. Sami Ulus Maternity and Children's Health and DiseasesTraining and Research Hospital, Ankara, Turkey.
Kilic M Division of Pediatric Metabolism, Dr. Sami Ulus Maternity and Children's Health and DiseasesTraining and Research Hospital, Ankara, Turkey.
Emine Derinkuyu B Division of Pediatric Radiology, Dr. Sami Ulus Maternity and Children's Health and DiseasesTraining and Research Hospital, Ankara, Turkey.
Azapagasi E Pediatric Intensive Care Unit, Dr. Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.
Kesici S Pediatric Intensive Care Unit, Dr. Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.
Biberoğlu G Division of Pediatric Metabolism and Nutrition, Gazi University Hospital, Ankara, Turkey.
Ozyazici A Division of Neonatology, Dr. Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.
Karaca M Division of Pediatric Metabolism, Harran University Hopsital, Sanliurfa, Turkey.
Haberle J Division of Metabolism, University Children's Hospital, Zurich, Switzerland.

2020-11-24

Published in:

Archivos argentinos de pediatria. - 2020

N-acetylglutamate synthase deficiency

English 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.

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