A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III

Introduction: A deficiency of glycogen debrancher enzyme in patients with glycogen storage disease type III (GSD III) manifests with hepatic, cardiac, and muscle involvement in the most common subtype (type a), or with only hepatic involvement in patients with GSD IIIb. Objective and methods: To des...

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Autores principales:	Ghada Hijazi, Anna Paschall, Sarah P. Young, Brian Smith, Laura E. Case, Tracy Boggs, Sathya Amarasekara, Stephanie L. Austin, Surekha Pendyal, Areeg El-Gharbawy, Kristen L. Deak, Andrew J. Muir, Priya S. Kishnani
Formato:	article
Lenguaje:	EN
Publicado:	Elsevier 2021
Materias:	Glycogen storage disease type III (GSD III) Hypoglycemia Cirrhosis Left ventricular hypertrophy (LVH) Cardiomyopathy and myopathy Medicine (General) R5-920 Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/4e0ccde04a5d4a4db4785200b06ae36a
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spelling	oai:doaj.org-article:4e0ccde04a5d4a4db4785200b06ae36a2021-11-12T04:34:16ZA retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III2214-426910.1016/j.ymgmr.2021.100821https://doaj.org/article/4e0ccde04a5d4a4db4785200b06ae36a2021-12-01T00:00:00Zhttp://www.sciencedirect.com/science/article/pii/S2214426921001166https://doaj.org/toc/2214-4269Introduction: A deficiency of glycogen debrancher enzyme in patients with glycogen storage disease type III (GSD III) manifests with hepatic, cardiac, and muscle involvement in the most common subtype (type a), or with only hepatic involvement in patients with GSD IIIb. Objective and methods: To describe longitudinal biochemical, radiological, muscle strength and ambulation, liver histopathological findings, and clinical outcomes in adults (≥18 years) with glycogen storage disease type III, by a retrospective review of medical records. Results: Twenty-one adults with GSD IIIa (14 F & 7 M) and four with GSD IIIb (1 F & 3 M) were included in this natural history study. At the most recent visit, the median (range) age and follow-up time were 36 (19–68) and 16 years (0–41), respectively. For the entire cohort: 40% had documented hypoglycemic episodes in adulthood; hepatomegaly and cirrhosis were the most common radiological findings; and 28% developed decompensated liver disease and portal hypertension, the latter being more prevalent in older patients. In the GSD IIIa group, muscle weakness was a major feature, noted in 89% of the GSD IIIa cohort, a third of whom depended on a wheelchair or an assistive walking device. Older individuals tended to show more severe muscle weakness and mobility limitations, compared with younger adults. Asymptomatic left ventricular hypertrophy (LVH) was the most common cardiac manifestation, present in 43%. Symptomatic cardiomyopathy and reduced ejection fraction was evident in 10%. Finally, a urinary biomarker of glycogen storage (Glc4) was significantly associated with AST, ALT and CK. Conclusion: GSD III is a multisystem disorder in which a multidisciplinary approach with regular clinical, biochemical, radiological and functional (physical therapy assessment) follow-up is required. Despite dietary modification, hepatic and myopathic disease progression is evident in adults, with muscle weakness as the major cause of morbidity. Consequently, definitive therapies that address the underlying cause of the disease to correct both liver and muscle are needed.Ghada HijaziAnna PaschallSarah P. YoungBrian SmithLaura E. CaseTracy BoggsSathya AmarasekaraStephanie L. AustinSurekha PendyalAreeg El-GharbawyKristen L. DeakAndrew J. MuirPriya S. KishnaniElsevierarticleGlycogen storage disease type III (GSD III)HypoglycemiaCirrhosisLeft ventricular hypertrophy (LVH)Cardiomyopathyand myopathyMedicine (General)R5-920Biology (General)QH301-705.5ENMolecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100821- (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Glycogen storage disease type III (GSD III) Hypoglycemia Cirrhosis Left ventricular hypertrophy (LVH) Cardiomyopathy and myopathy Medicine (General) R5-920 Biology (General) QH301-705.5
spellingShingle	Glycogen storage disease type III (GSD III) Hypoglycemia Cirrhosis Left ventricular hypertrophy (LVH) Cardiomyopathy and myopathy Medicine (General) R5-920 Biology (General) QH301-705.5 Ghada Hijazi Anna Paschall Sarah P. Young Brian Smith Laura E. Case Tracy Boggs Sathya Amarasekara Stephanie L. Austin Surekha Pendyal Areeg El-Gharbawy Kristen L. Deak Andrew J. Muir Priya S. Kishnani A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III
description	Introduction: A deficiency of glycogen debrancher enzyme in patients with glycogen storage disease type III (GSD III) manifests with hepatic, cardiac, and muscle involvement in the most common subtype (type a), or with only hepatic involvement in patients with GSD IIIb. Objective and methods: To describe longitudinal biochemical, radiological, muscle strength and ambulation, liver histopathological findings, and clinical outcomes in adults (≥18 years) with glycogen storage disease type III, by a retrospective review of medical records. Results: Twenty-one adults with GSD IIIa (14 F & 7 M) and four with GSD IIIb (1 F & 3 M) were included in this natural history study. At the most recent visit, the median (range) age and follow-up time were 36 (19–68) and 16 years (0–41), respectively. For the entire cohort: 40% had documented hypoglycemic episodes in adulthood; hepatomegaly and cirrhosis were the most common radiological findings; and 28% developed decompensated liver disease and portal hypertension, the latter being more prevalent in older patients. In the GSD IIIa group, muscle weakness was a major feature, noted in 89% of the GSD IIIa cohort, a third of whom depended on a wheelchair or an assistive walking device. Older individuals tended to show more severe muscle weakness and mobility limitations, compared with younger adults. Asymptomatic left ventricular hypertrophy (LVH) was the most common cardiac manifestation, present in 43%. Symptomatic cardiomyopathy and reduced ejection fraction was evident in 10%. Finally, a urinary biomarker of glycogen storage (Glc4) was significantly associated with AST, ALT and CK. Conclusion: GSD III is a multisystem disorder in which a multidisciplinary approach with regular clinical, biochemical, radiological and functional (physical therapy assessment) follow-up is required. Despite dietary modification, hepatic and myopathic disease progression is evident in adults, with muscle weakness as the major cause of morbidity. Consequently, definitive therapies that address the underlying cause of the disease to correct both liver and muscle are needed.
format	article
author	Ghada Hijazi Anna Paschall Sarah P. Young Brian Smith Laura E. Case Tracy Boggs Sathya Amarasekara Stephanie L. Austin Surekha Pendyal Areeg El-Gharbawy Kristen L. Deak Andrew J. Muir Priya S. Kishnani
author_facet	Ghada Hijazi Anna Paschall Sarah P. Young Brian Smith Laura E. Case Tracy Boggs Sathya Amarasekara Stephanie L. Austin Surekha Pendyal Areeg El-Gharbawy Kristen L. Deak Andrew J. Muir Priya S. Kishnani
author_sort	Ghada Hijazi
title	A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III
title_short	A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III
title_full	A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III
title_fullStr	A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III
title_full_unstemmed	A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III
title_sort	retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type iii
publisher	Elsevier
publishDate	2021
url	https://doaj.org/article/4e0ccde04a5d4a4db4785200b06ae36a
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A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III

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