title: Neonatal nonketotic hyperglycinemia: a case study and review of management for the advanced practice nurse.
abstract: Nonketotic hyperglycinemia (NKH) is an autosomal recessive inborn error of glycine metabolism. In this article, I will present the case of baby girl S. who presented to the emergency room on Day 4 of life with severe lethargy, seizures, and respiratory depression requiring mechanical ventilation. A diagnosis of NKH was made secondary to elevated plasma and cerebrospinal fluid glycine concentrations. I will review the pathophysiology of NKH, methods of diagnosis, and the differential diagnosis. There are a variety of different pharmacologic and alternative therapies for NKH. Despite these treatments, the prognosis for infants with NKH is poor, with severe neurologic impairment, intractable seizures, and death common before 5 years of age. I will address the role of the advanced practice nurse in caring for an infant with NKH including clinical, educational, and research implications.
authors.affiliation: Mercy Medical Center in Baltimore, Maryland, USA. joanna.mulligan@gmail.com
authors.forename: Joanna L
authors.initials: JL
authors.lastname: Mulligan
mesh_terms: D057179:Advanced Practice Nursing; D003937:Diagnosis, Differential; D042241:Early Diagnosis; D005260:Female; D005998:Glycine / Q000378:metabolism; D017051:Hospice Care; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000175:diagnosis / Q000235:genetics* / Q000451:nursing*; D007231:Infant, Newborn
chemical_list: D005998:Glycine