The multiple faces of urinary glucose tetrasaccharide as biomarker for patients with hepatic glycogen storage diseases

Heiner‐Fokkema, M. Rebecca; Krogt, Jennifer van der; Boer, Foekje de; Fokkert-Wilts, Marieke J; Maatman, R.; Hoogeveen, Irene J.; Derks, Terry G J

doi:10.1038/s41436-020-0878-2

Cited by 13 publications

(14 citation statements)

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“…The authors of "The multiple faces of urinary glucose tetrasaccharide as a biomarker for patients with hepatic glycogen storage diseases" report their experience of monitoring the urinary glucose tetrasaccharide biomarker, Glc 4 , in patients with glycogen storage disorder (GSD) III. 1 Their findings of consistently elevated Glc 4 in patients with GSD III, and generally higher values than in age-matched Pompe disease populations, is in agreement with published studies. 2,3 The authors described one infant demonstrating a decrease in Glc 4 , aspartate aminotransferase (AST), and alanine aminotransferase (ALT) between 0.66 and 1.27 years of age, and this was suggested to reflect an improvement in liver enzymes in response to dietary treatment.…”

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confidence: 90%

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Response to Heiner-Fokkema et al.

Young

Khan

Austin

et al. 2020

Genetics in Medicine

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“…Sarah P. Young, PhD 1 , Aleena A. Khan, MBBS 1 , Stephanie L. Austin, MS, MA 1 and Priya S. Kishnani, MD 1…”

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confidence: 99%

Response to Heiner-Fokkema et al.

Young

Khan

Austin

et al. 2020

Genetics in Medicine

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“…22,28,55 Urinary glucose tetrasaccharide (Glc4), a metabolite resulting from enzymatic degradation of glycogen by amylase, represents another potential biomarker for GSD III. Although already described as a biomarker for Pompe disease, recent publications highlight its elevation in other glycogen storage disorders including GSD III [56][57][58] Notably, Heiner-Fokkema and colleagues 56 described decrease of urine Glc4 and markers of liver injury in a child following initiation of dietary therapy and suggested that this results from improvement in liver function and fasting tolerance. Other studies 10 and some authors 57 proposed that this decrease is rather due to the loss of hepatic tissue because of fibrosis.…”

Section: Muscular Symptomsmentioning

confidence: 99%

Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects

Berling

Laforêt

Wahbi

et al. 2021

J of Inher Metab Disea

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Glycogen storage disorder type III (GSDIII) is a rare inborn error of metabolism due to loss of glycogen debranching enzyme activity, causing inability to fully mobilize glycogen stores and its consequent accumulation in various tissues, notably liver, cardiac and skeletal muscle. In the pediatric population, it classically presents as hepatomegaly with or without ketotic hypoglycemia and failure to thrive. In the adult population, it should also be considered in the differential diagnosis of left ventricular hypertrophy or hypertrophic cardiomyopathy, myopathy, exercise intolerance, as well as liver cirrhosis or fibrosis with subsequent liver failure. In this review article, we first present an overview of the biochemical and clinical aspects of GSDIII. We then focus on the recent findings regarding cardiac and neuromuscular impairment associated with the disease. We review new insights into the pathophysiology and clinical picture of this disorder, including symptomatology, imaging and electrophysiology. Finally, we discuss current and upcoming treatment strategies such as gene therapy aimed at the replacement of the malfunctioning enzyme to provide a stable and long‐term therapeutic option for this debilitating disease.

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“…Glc 4 is a promising biomarker in GSD III as it is correlated with serum transaminases in pediatric patients with GSD III 20,23 and a GSD III dog model, 26 and with CK in adults with GSD III. 23 These observations suggest urinary Glc 4 reflects glycogen accumulation in liver more than muscle in the pediatric population, and muscle glycogen accumulation in adults. However, given the clinical variability of GSD IIIa and an increasing understanding of early muscle involvement, clinical correlation is needed in interpreting the source of Glc 4 in GSD III.…”

Section: Discussionmentioning

confidence: 99%

“…Urinary Glc 4 is an established biomarker in patients with Pompe disease, correlating with skeletal muscle glycogen and disease status in these patients 17‐19 . Glc 4 is also elevated in GSD III, 16,20‐23 and has potential as a biomarker in this disorder. Glc 4 is usually measured in randomly collected voids (spot urines) for the convenience of patients and clinical personnel.…”

Section: Introductionmentioning

confidence: 99%

Diurnal variability of glucose tetrasaccharide (Glc₄) excretion in patients with glycogen storage disease type III

et al. 2020

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Aim The urinary glucose tetrasaccharide, Glcα1‐6Glcα1‐4Glcα1‐4Glc (Glc4), is a glycogen limit dextrin that is elevated in patients with glycogen storage disease (GSD) type III. We evaluated the potential of uncooked cornstarch therapy to interfere with Glc4 monitoring, by measuring the diurnal variability of Glc4 excretion in patients with GSD III. Methods Voids were collected at home over 24 hours, stored at 4°C and frozen within 48 hours. Glc4 was analyzed using liquid chromatography‐tandem mass spectrometry and normalized to creatinine. Results Subjects with GSD III (median age: 13.5 years, range: 3.7‐62; n = 18) completed one or more 24‐hour urine collection, and 28/36 collections were accepted for analysis. Glc4 was elevated in 16/18 subjects (median: 13 mmol/mol creatinine, range: 2‐75, reference range: <3). In collections with elevated Glc4 (23/28), two‐thirds (15/23) had low diurnal variability in Glc4 excretion (coefficient of variation [CV%] <25). The diurnal variability was significantly correlated with the Glc4 concentration (Pearson R = .644, P < .05), but not with the dose of uncooked cornstarch. High intraday variability (>25%) was not consistently observed in repeat collections by the same subject. Conclusions The extent and variability of Glc4 excretion relative to creatinine was not correlated with cornstarch dose. A majority of collections showed low variability over 24 hours. These findings support the use of single time‐point collections to evaluate Glc4 in patients with GSD III treated with cornstarch. However, repeat sampling over short time‐periods will provide the most accurate assessment of Glc4 excretion, as intraday variability may be increased in patients with high Glc4 excretion.

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The multiple faces of urinary glucose tetrasaccharide as biomarker for patients with hepatic glycogen storage diseases

Cited by 13 publications

References 10 publications

Response to Heiner-Fokkema et al.

Response to Heiner-Fokkema et al.

Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects

Diurnal variability of glucose tetrasaccharide (Glc₄) excretion in patients with glycogen storage disease type III

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The multiple faces of urinary glucose tetrasaccharide as biomarker for patients with hepatic glycogen storage diseases

Cited by 13 publications

References 10 publications

Response to Heiner-Fokkema et al.

Response to Heiner-Fokkema et al.

Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects

Diurnal variability of glucose tetrasaccharide (Glc4) excretion in patients with glycogen storage disease type III

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Diurnal variability of glucose tetrasaccharide (Glc₄) excretion in patients with glycogen storage disease type III