Cargando…

Growth hormone as a rescue treatment in maple syrup urine disease with lessons from pediatric burn literature, case report and brief literature review

Maple Syrup Urine Disease (MSUD) is a rare inherited disorder of branched chain amino acid metabolism characterized by cerebral edema and death in uncorrected metabolic crisis. It is conventionally treated with intensive nutritional therapy to prevent and correct metabolic crisis. This paper reports...

Descripción completa

Detalles Bibliográficos
Autores principales: Kimbrell, Brooke E., Hicks, Faith, Foster, Cortney B., Kishk, Omayma A., Quinteros-Fernandez, Sara A., Nikita, Maria Eleni, Greene, Carol L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7744761/
https://www.ncbi.nlm.nih.gov/pubmed/33354514
http://dx.doi.org/10.1016/j.ymgmr.2020.100685
_version_ 1783624491850530816
author Kimbrell, Brooke E.
Hicks, Faith
Foster, Cortney B.
Kishk, Omayma A.
Quinteros-Fernandez, Sara A.
Nikita, Maria Eleni
Greene, Carol L.
author_facet Kimbrell, Brooke E.
Hicks, Faith
Foster, Cortney B.
Kishk, Omayma A.
Quinteros-Fernandez, Sara A.
Nikita, Maria Eleni
Greene, Carol L.
author_sort Kimbrell, Brooke E.
collection PubMed
description Maple Syrup Urine Disease (MSUD) is a rare inherited disorder of branched chain amino acid metabolism characterized by cerebral edema and death in uncorrected metabolic crisis. It is conventionally treated with intensive nutritional therapy to prevent and correct metabolic crisis. This paper reports the use of growth hormone as a pharmacologic rescue agent in the case of an 11-year-old male with MSUD and metabolic crisis refractory to standard interventions. The initiation of short courses of growth hormone correlated with corrected mental status, resolution of metabolic acidosis, and improvement in plasma leucine levels on two occasions during an admission to the pediatric intensive care unit. This is the first known case report of the use of growth hormone in MSUD since contemporary dietary management became available. The discussion includes a literature review of the use of growth hormone in inherited diseases of amino acid metabolism and a brief discussion of protein anabolic pharmacotherapeutic agents shown to improve net protein balance in pediatric burn patients. We propose that growth hormone and other protein anabolic agents may be valuable adjuvants to standard therapy in children with inherited metabolic disease.
format Online
Article
Text
id pubmed-7744761
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher Elsevier
record_format MEDLINE/PubMed
spelling pubmed-77447612020-12-21 Growth hormone as a rescue treatment in maple syrup urine disease with lessons from pediatric burn literature, case report and brief literature review Kimbrell, Brooke E. Hicks, Faith Foster, Cortney B. Kishk, Omayma A. Quinteros-Fernandez, Sara A. Nikita, Maria Eleni Greene, Carol L. Mol Genet Metab Rep Case Report Maple Syrup Urine Disease (MSUD) is a rare inherited disorder of branched chain amino acid metabolism characterized by cerebral edema and death in uncorrected metabolic crisis. It is conventionally treated with intensive nutritional therapy to prevent and correct metabolic crisis. This paper reports the use of growth hormone as a pharmacologic rescue agent in the case of an 11-year-old male with MSUD and metabolic crisis refractory to standard interventions. The initiation of short courses of growth hormone correlated with corrected mental status, resolution of metabolic acidosis, and improvement in plasma leucine levels on two occasions during an admission to the pediatric intensive care unit. This is the first known case report of the use of growth hormone in MSUD since contemporary dietary management became available. The discussion includes a literature review of the use of growth hormone in inherited diseases of amino acid metabolism and a brief discussion of protein anabolic pharmacotherapeutic agents shown to improve net protein balance in pediatric burn patients. We propose that growth hormone and other protein anabolic agents may be valuable adjuvants to standard therapy in children with inherited metabolic disease. Elsevier 2020-12-13 /pmc/articles/PMC7744761/ /pubmed/33354514 http://dx.doi.org/10.1016/j.ymgmr.2020.100685 Text en © 2020 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Kimbrell, Brooke E.
Hicks, Faith
Foster, Cortney B.
Kishk, Omayma A.
Quinteros-Fernandez, Sara A.
Nikita, Maria Eleni
Greene, Carol L.
Growth hormone as a rescue treatment in maple syrup urine disease with lessons from pediatric burn literature, case report and brief literature review
title Growth hormone as a rescue treatment in maple syrup urine disease with lessons from pediatric burn literature, case report and brief literature review
title_full Growth hormone as a rescue treatment in maple syrup urine disease with lessons from pediatric burn literature, case report and brief literature review
title_fullStr Growth hormone as a rescue treatment in maple syrup urine disease with lessons from pediatric burn literature, case report and brief literature review
title_full_unstemmed Growth hormone as a rescue treatment in maple syrup urine disease with lessons from pediatric burn literature, case report and brief literature review
title_short Growth hormone as a rescue treatment in maple syrup urine disease with lessons from pediatric burn literature, case report and brief literature review
title_sort growth hormone as a rescue treatment in maple syrup urine disease with lessons from pediatric burn literature, case report and brief literature review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7744761/
https://www.ncbi.nlm.nih.gov/pubmed/33354514
http://dx.doi.org/10.1016/j.ymgmr.2020.100685
work_keys_str_mv AT kimbrellbrookee growthhormoneasarescuetreatmentinmaplesyrupurinediseasewithlessonsfrompediatricburnliteraturecasereportandbriefliteraturereview
AT hicksfaith growthhormoneasarescuetreatmentinmaplesyrupurinediseasewithlessonsfrompediatricburnliteraturecasereportandbriefliteraturereview
AT fostercortneyb growthhormoneasarescuetreatmentinmaplesyrupurinediseasewithlessonsfrompediatricburnliteraturecasereportandbriefliteraturereview
AT kishkomaymaa growthhormoneasarescuetreatmentinmaplesyrupurinediseasewithlessonsfrompediatricburnliteraturecasereportandbriefliteraturereview
AT quinterosfernandezsaraa growthhormoneasarescuetreatmentinmaplesyrupurinediseasewithlessonsfrompediatricburnliteraturecasereportandbriefliteraturereview
AT nikitamariaeleni growthhormoneasarescuetreatmentinmaplesyrupurinediseasewithlessonsfrompediatricburnliteraturecasereportandbriefliteraturereview
AT greenecaroll growthhormoneasarescuetreatmentinmaplesyrupurinediseasewithlessonsfrompediatricburnliteraturecasereportandbriefliteraturereview