Clinical, ethical and legal considerations in the treatment of newborns with non-ketotic hyperglycinaemia

Mol Genet Metab. 2008 Jun;94(2):143-7. doi: 10.1016/j.ymgme.2008.02.010. Epub 2008 Apr 18.

Abstract

Non-ketotic hyperglycinaemia (NKH) is a devastating neurometabolic disorder leading, in its classical form, to early death or severe disability and poor quality of life in survivors. Affected neonates may need ventilatory support during a short period of respiratory depression. The transient dependence on ventilation dictates urgency in decision-making regarding withdrawal of therapy. The occurrence of patients with apparent transient forms of the disease, albeit rare, adds uncertainty to the prediction of clinical outcome and dictates that the current practice of withholding or withdrawing therapy in these neonates be reviewed. Both bioethics and law take the view that treatment decisions should be based on the best interests of the patient. The medical-ethics approach is based on the principles of non-maleficence, beneficence, autonomy and justice. The law relating to withholding or withdrawing life-sustaining treatment is complex and varies between jurisdictions. Physicians treating newborns with NKH need to provide families with accurate and complete information regarding the disease and the relative probability of possible outcomes of the neonatal presentation and to explore the extent to which family members are willing to take part in the decision making process. Cultural and religious attitudes, which may potentially clash with bioethical and juridical principles, need to be considered.

Publication types

  • Review

MeSH terms

  • Decision Making*
  • Ethics, Medical*
  • Humans
  • Hyperglycinemia, Nonketotic / diagnosis
  • Hyperglycinemia, Nonketotic / therapy*
  • Infant, Newborn
  • Liability, Legal
  • Life Support Care
  • Neonatology / ethics*
  • Neonatology / legislation & jurisprudence*
  • Withholding Treatment / legislation & jurisprudence