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: Joanna L Mulligan
• Journal: Neonatal network : NN (Neonatal Netw) 2013 Mar-Apr Vol. 32 Issue 2 Pg. 95-103 ISSN: 1539-2880 [Electronic] United States
• PMID: 23477976 (Publication Type: Case Reports, Journal Article, Review)

Chemical References

• Glycine

Topics

• Advanced Practice Nursing
• Diagnosis, Differential
• Early Diagnosis
• Female
• Glycine (metabolism)
• Hospice Care
• Humans
• Hyperglycinemia, Nonketotic (diagnosis, genetics, nursing)
• Infant, Newborn