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Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases
3-Hydroxy-3-Methylglutaryl-CoA Lyase (HMGCL) deficiency can be a very severe disorder that typically presents with acute metabolic decompensation with features of hypoketotic hypoglycemia, hyperammonemia, and metabolic acidosis. A retrospective chart and literature review of Australian patients over...
Autores principales: | , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9920477/ https://www.ncbi.nlm.nih.gov/pubmed/36771238 http://dx.doi.org/10.3390/nu15030531 |
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author | Thompson, Susan Hertzog, Ashley Selvanathan, Arthavan Batten, Kiera Lewis, Katherine Nisbet, Janelle Mitchell, Ashleigh Dalkeith, Troy Billmore, Kate Moore, Francesca Tolun, Adviye Ayper Devanapalli, Beena Bratkovic, Drago Hilditch, Cathie Rahman, Yusof Tchan, Michel Bhattacharya, Kaustuv |
author_facet | Thompson, Susan Hertzog, Ashley Selvanathan, Arthavan Batten, Kiera Lewis, Katherine Nisbet, Janelle Mitchell, Ashleigh Dalkeith, Troy Billmore, Kate Moore, Francesca Tolun, Adviye Ayper Devanapalli, Beena Bratkovic, Drago Hilditch, Cathie Rahman, Yusof Tchan, Michel Bhattacharya, Kaustuv |
author_sort | Thompson, Susan |
collection | PubMed |
description | 3-Hydroxy-3-Methylglutaryl-CoA Lyase (HMGCL) deficiency can be a very severe disorder that typically presents with acute metabolic decompensation with features of hypoketotic hypoglycemia, hyperammonemia, and metabolic acidosis. A retrospective chart and literature review of Australian patients over their lifespan, incorporating acute and long-term dietary management, was performed. Data from 10 patients contributed to this study. The index case of this disorder was lost to follow-up, but there is 100% survival in the remainder of the cases despite several having experienced life-threatening episodes. In the acute setting, five of nine patients have used 900 mg/kg/day of sodium D,L 3-hydroxybutyrate in combination with intravenous dextrose-containing fluids (delivering glucose above estimated basal utilization requirements). All patients have been on long-term protein restriction, and those diagnosed more recently have had additional fat restriction. Most patients take L-carnitine. Three children and none of the adults take nocturnal uncooked cornstarch. Of the cohort, there were two patients that presented atypically—one with fulminant liver failure and the other with isolated developmental delay. Dietary management in patients with HMGCL deficiency is well tolerated, and rapid institution of acute supportive metabolic treatment is imperative to optimizing survival and improve outcomes in this disorder. |
format | Online Article Text |
id | pubmed-9920477 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-99204772023-02-12 Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases Thompson, Susan Hertzog, Ashley Selvanathan, Arthavan Batten, Kiera Lewis, Katherine Nisbet, Janelle Mitchell, Ashleigh Dalkeith, Troy Billmore, Kate Moore, Francesca Tolun, Adviye Ayper Devanapalli, Beena Bratkovic, Drago Hilditch, Cathie Rahman, Yusof Tchan, Michel Bhattacharya, Kaustuv Nutrients Article 3-Hydroxy-3-Methylglutaryl-CoA Lyase (HMGCL) deficiency can be a very severe disorder that typically presents with acute metabolic decompensation with features of hypoketotic hypoglycemia, hyperammonemia, and metabolic acidosis. A retrospective chart and literature review of Australian patients over their lifespan, incorporating acute and long-term dietary management, was performed. Data from 10 patients contributed to this study. The index case of this disorder was lost to follow-up, but there is 100% survival in the remainder of the cases despite several having experienced life-threatening episodes. In the acute setting, five of nine patients have used 900 mg/kg/day of sodium D,L 3-hydroxybutyrate in combination with intravenous dextrose-containing fluids (delivering glucose above estimated basal utilization requirements). All patients have been on long-term protein restriction, and those diagnosed more recently have had additional fat restriction. Most patients take L-carnitine. Three children and none of the adults take nocturnal uncooked cornstarch. Of the cohort, there were two patients that presented atypically—one with fulminant liver failure and the other with isolated developmental delay. Dietary management in patients with HMGCL deficiency is well tolerated, and rapid institution of acute supportive metabolic treatment is imperative to optimizing survival and improve outcomes in this disorder. MDPI 2023-01-19 /pmc/articles/PMC9920477/ /pubmed/36771238 http://dx.doi.org/10.3390/nu15030531 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Thompson, Susan Hertzog, Ashley Selvanathan, Arthavan Batten, Kiera Lewis, Katherine Nisbet, Janelle Mitchell, Ashleigh Dalkeith, Troy Billmore, Kate Moore, Francesca Tolun, Adviye Ayper Devanapalli, Beena Bratkovic, Drago Hilditch, Cathie Rahman, Yusof Tchan, Michel Bhattacharya, Kaustuv Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases |
title | Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases |
title_full | Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases |
title_fullStr | Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases |
title_full_unstemmed | Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases |
title_short | Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases |
title_sort | treatment of hmg-coa lyase deficiency—longitudinal data on clinical and nutritional management of 10 australian cases |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9920477/ https://www.ncbi.nlm.nih.gov/pubmed/36771238 http://dx.doi.org/10.3390/nu15030531 |
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