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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...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
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.
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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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