Cargando…
Perioperative care of a child with non-ketotic hyperglycinemia
Non-ketotic hyperglycinemia (NKGH) is an autosomal recessive disorder of glycine metabolism. Defective glycine cleavage results in elevated concentrations of glycine in plasma, urine and cerebrospinal fluid. The accumulation of glycine, an inhibitory neurotransmitter, leads to a clinical presentatio...
Autores principales: | , |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications
2010
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2980668/ https://www.ncbi.nlm.nih.gov/pubmed/21189859 http://dx.doi.org/10.4103/1658-354X.71578 |
_version_ | 1782191646532698112 |
---|---|
author | Allee, Joy Tobias, Joseph D. |
author_facet | Allee, Joy Tobias, Joseph D. |
author_sort | Allee, Joy |
collection | PubMed |
description | Non-ketotic hyperglycinemia (NKGH) is an autosomal recessive disorder of glycine metabolism. Defective glycine cleavage results in elevated concentrations of glycine in plasma, urine and cerebrospinal fluid. The accumulation of glycine, an inhibitory neurotransmitter, leads to a clinical presentation of apnea, lethargy, hypotonia, seizures, and severe psychomotor retardation. There are four clinical variants of NKHG, which have been described in the medical literature. Neonatal NKHG is the most common as well as the most devastating and lethal form of the disorder. Given the multi-system involvement of the disorder, there are several perioperative concerns of such patients with delayed emergence requiring supported ventilation being a common postoperative outcome for NKHG patients. We report the perioperative management of a 4-year-old boy with NKGH who required anesthetic care during an adenoidectomy and tonsillectomy for obstructive sleep apnea. |
format | Text |
id | pubmed-2980668 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2010 |
publisher | Medknow Publications |
record_format | MEDLINE/PubMed |
spelling | pubmed-29806682010-12-28 Perioperative care of a child with non-ketotic hyperglycinemia Allee, Joy Tobias, Joseph D. Saudi J Anaesth Case Report Non-ketotic hyperglycinemia (NKGH) is an autosomal recessive disorder of glycine metabolism. Defective glycine cleavage results in elevated concentrations of glycine in plasma, urine and cerebrospinal fluid. The accumulation of glycine, an inhibitory neurotransmitter, leads to a clinical presentation of apnea, lethargy, hypotonia, seizures, and severe psychomotor retardation. There are four clinical variants of NKHG, which have been described in the medical literature. Neonatal NKHG is the most common as well as the most devastating and lethal form of the disorder. Given the multi-system involvement of the disorder, there are several perioperative concerns of such patients with delayed emergence requiring supported ventilation being a common postoperative outcome for NKHG patients. We report the perioperative management of a 4-year-old boy with NKGH who required anesthetic care during an adenoidectomy and tonsillectomy for obstructive sleep apnea. Medknow Publications 2010 /pmc/articles/PMC2980668/ /pubmed/21189859 http://dx.doi.org/10.4103/1658-354X.71578 Text en © Saudi Journal of Anaesthesia http://creativecommons.org/licenses/by/2.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Allee, Joy Tobias, Joseph D. Perioperative care of a child with non-ketotic hyperglycinemia |
title | Perioperative care of a child with non-ketotic hyperglycinemia |
title_full | Perioperative care of a child with non-ketotic hyperglycinemia |
title_fullStr | Perioperative care of a child with non-ketotic hyperglycinemia |
title_full_unstemmed | Perioperative care of a child with non-ketotic hyperglycinemia |
title_short | Perioperative care of a child with non-ketotic hyperglycinemia |
title_sort | perioperative care of a child with non-ketotic hyperglycinemia |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2980668/ https://www.ncbi.nlm.nih.gov/pubmed/21189859 http://dx.doi.org/10.4103/1658-354X.71578 |
work_keys_str_mv | AT alleejoy perioperativecareofachildwithnonketotichyperglycinemia AT tobiasjosephd perioperativecareofachildwithnonketotichyperglycinemia |