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Reigstad H, Woldseth B, Häberle J. Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency. JIMD Rep. 2017;37:45-47doi: 10.1007/8904_2017_13.
Reigstad, H., Woldseth, B., & Häberle, J. (2017). Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency. JIMD reports, 3745-47. https://doi.org/10.1007/8904_2017_13
Reigstad, Hallvard, et al. "Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency." JIMD reports vol. 37 (2017): 45-47. doi: https://doi.org/10.1007/8904_2017_13
Reigstad H, Woldseth B, Häberle J. Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency. JIMD Rep. 2017;37:45-47. doi: 10.1007/8904_2017_13. Epub 2017 Mar 09. PMID: 28275973; PMCID: PMC5740051.
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JIMD Rep. 2017;37:45-47. doi: 10.1007/8904_2017_13. Epub 2017 Mar 09.

Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency.

JIMD reports

Hallvard Reigstad, Berit Woldseth, Johannes Häberle

Affiliations

  1. Neonatal Intensive Care Unit, Children's Department, Haukeland University Hospital, 5021, Bergen, Norway. [email protected].
  2. Department of Medical Biochemistry, Oslo University Hospital, 0424, Oslo, Norway.
  3. Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Eleonore Foundation, Steinwiesstrasse 75, 8032, Zürich, Switzerland.

PMID: 28275973 PMCID: PMC5740051 DOI: 10.1007/8904_2017_13

Abstract

A girl born at term was admitted to the neonatal intensive care unit because of mild respiratory distress after a complicated delivery. She recovered, but was readmitted at 58 h of life with mild respiratory distress and increased muscle tone. Neonatal abstinence syndrome because of maternal use of lithium, clomipramine, and quetiapine during pregnancy was suspected, but at 115 h of life she became unresponsive, and an immediate work-up for coma was initiated. An ammonia of 2,235 μmol/l was found, and treatment with sodium benzoate, sodium phenylacetate, arginine, glucose, and N-carbamylglutamate (NCG, Carbaglu

Keywords: Case report; Hyperammonemia; N-acetyl glutamate synthase deficiency; Neonatal coma

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