Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities

Szymańska, Edyta; Szymańska, Sylwia; Truszkowska, Grażyna; Ciara, Elżbieta; Pronicki, Maciej; Shin, Yoon S.; Podskarbi, T.; Kępka, Alina; Śpiewak, Mateusz; Płoski, Rafał; Bilińska, Zofia T.; Rokicki, Dariusz

doi:10.5114/aoms.2018.72246

Cited by 22 publications

(25 citation statements)

References 23 publications

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“…The classical hepatic GSD4 typically presents within 18 months of birth with patients having a failure to thrive, hepatosplenomegaly, and liver cirrhosis (51). As the disease progresses, liver failure ultimately results, leading to death by the age of 5 unless a liver transplant is performed (51). A non-progressive hepatic form with a similar presentation has also been described (52,53).…”

Section: Gsdmentioning

confidence: 99%

Glycogen metabolism and glycogen storage disorders

Kanungo¹,

Wells²,

Tribett³

et al. 2018

Ann. Transl. Med

135

114

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Glucose is the main energy fuel for the human brain. Maintenance of glucose homeostasis is therefore, crucial to meet cellular energy demands in both-normal physiological states and during stress or increased demands. Glucose is stored as glycogen primarily in the liver and skeletal muscle with a small amount stored in the brain. Liver glycogen primarily maintains blood glucose levels, while skeletal muscle glycogen is utilized during high-intensity exertion, and brain glycogen is an emergency cerebral energy source. Glycogen and glucose transform into one another through glycogen synthesis and degradation pathways. Thus, enzymatic defects along these pathways are associated with altered glucose metabolism and breakdown leading to hypoglycemia ± hepatomegaly and or liver disease in hepatic forms of glycogen storage disorder (GSD) and skeletal ± cardiac myopathy, depending on the site of the enzyme defects. Overall, defects in glycogen metabolism mainly present as GSDs and are a heterogenous group of inborn errors of carbohydrate metabolism. In this article we review the genetics, epidemiology, clinical and metabolic findings of various types of GSD, and glycolysis defects emphasizing current treatment and implications for future directions.

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Section: Gsdmentioning

confidence: 99%

Glycogen metabolism and glycogen storage disorders

Kanungo¹,

Wells²,

Tribett³

et al. 2018

Ann. Transl. Med

135

114

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“…18 Currently, 63 novel mutations have been identified. 19 The hallmarks of GSD IV include histopathologic findings of DR-PAS positive inclusions in addition to decreased GBE enzymatic function and/or molecular studies showing alterations in the GBE1 gene. 20 In the neuromuscular variant, inclusions may display multisystem involvement, including depositions in heart, liver, muscle, and neural tissue.…”

Section: Discussionmentioning

confidence: 99%

Glycogen Storage Disease Type IV Diagnosed at Fetal Autopsy

et al. 2019

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Glycogen storage disease type IV (GSD IV; Andersen's disease) is a rare autosomal recessive disorder that results from defects in the GBE1 gene (3p12.2) and subsequent deficiencies of glycogen branching. We report a case of GSD IV diagnosed at autopsy in a 35 4/7 weeks gestational age female neonate that died shortly after birth. Multisystem blue, ground glass inclusions initially presumed artefactual were periodic acid-Schiff positive, diastase resistant. Chromosomal microarray analysis identified a deletion of exons 2 through 16 of the GBE1 gene and whole exome sequencing identified a nonsense mutation within exon 14, confirming the diagnosis of GSD IV. A strong index of suspicion was required determine GSD IV as the ultimate cause of death, illustrating the need for critical evaluation of postmortem artifact in the setting of fetal demise of unknown etiology and highlighting the role of postmortem molecular diagnostics in a subset of cases.

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“…Такое различие в фенотипических проявлениях может быть обусловлено су ществованием тканеспецифичных изоформ дефицитного фермента. В настоящее время выделяют следующие формы заболевания: классическая печеночная, непрогрессирующая печеночная, фатальная перинатальная нервно-мышечная, врожденная нервно-мышечная, детская нервно-мышечная, взрослая нервно-мышечная с изолированной миопатией [31,32].…”

Section: клиническая картинаunclassified

“…У пациентов с ГБ VI и IX типов отмечаются аналогичные лабораторные изменения, выраженность которых значительно меньше и купируется с возрастом (обычно в пубертатном периоде) [34]. Концентрация глюкозы в сыворотке крови обычно нормальна при ГБ IV типа [32] тика, диетолога, нефролога, кардиолога, невролога, гематолога, ортопеда, хирурга и медицинского психолога. Консультации указанных специалистов назначаются в соответствии с клиническими проявлениями заболевания при первичной диагностике и динамическом наблюдении (при наличии показаний).…”

Section: диагностикаunclassified

Management of Children with Glycogen Storage Disease (Liver Involvement Forms). Best Practice Guidelines

Баранов¹,

Намазова-Баранова²,

Сурков³

et al. 2020

Pediatr. farmakol.

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Glycogen storage disease is the hereditary carbohydrate metabolism pathology which is caused by mutations in various genes encoding enzymes responsible for glycogenesis and glycogenolysis. Excessive glycogen deposition in various tissues cells (mostly in liver and muscles) occurs due to enzyme defects. The authors present recent epidemiological data and features of glycogen storage disease etiology and pathogenesis. Clinical characteristics of different types of this disease are also presented. The data on laboratory-instrumental and morphological signs of glycogen storage disease in children, as well as data on its treatment methods is provided in accordance with the developed clinical guidelines. The article provides relevant information on disease types with predominant liver involvement, besides the variety of clinical forms of glycogenosis.

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Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities

Cited by 22 publications

References 23 publications

Glycogen metabolism and glycogen storage disorders

Glycogen metabolism and glycogen storage disorders

Glycogen Storage Disease Type IV Diagnosed at Fetal Autopsy

Management of Children with Glycogen Storage Disease (Liver Involvement Forms). Best Practice Guidelines

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