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

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 depende...

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Bibliographic Details
Published in:Molecular genetics and metabolism 2008-06, Vol.94 (2), p.143-147
Main Authors: Boneh, A., Allan, S., Mendelson, D., Spriggs, M., Gillam, L.H., Korman, S.H.
Format: Article
Language:English
Subjects:
Decision Making
Ethics
Ethics, Medical
Humans
Hyperglycinemia, Nonketotic - diagnosis
Hyperglycinemia, Nonketotic - therapy
Infant, Newborn
Liability, Legal
Life Support Care
Neonatal care
Neonatology - ethics
Neonatology - legislation & jurisprudence
Non-ketotic hyperglycinemia
Withdrawal of therapy
Withholding of therapy
Withholding Treatment - legislation & jurisprudence
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Summary: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.
ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2008.02.010