Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?

El-Gharbawy, Areeg; Tolun, Adviye A.; Halaby, Carine A.; Austin, Stephanie; Kishnani, Priya S.; Bali, Deeksha

doi:10.1016/j.ymgmr.2022.100856

Cited by 4 publications

(4 citation statements)

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“…More recently, continuous ketone monitoring is being considered as a potential tool for patients at risk of ketoacidosis 155 , and such monitoring may be promising for some patients with liver GSDs. Moreover, measuring biotinidase activity in those with hepatic GSDs has been evaluated as it is higher than normal in individuals with hepatic GSDs for reasons that are not well understood 156 . Biotinidase activity is higher in individuals with elevated triglycerides and is below normal in individuals with liver fibrosis and cirrhosis 156 .…”

Section: Diagnosis and Monitoringmentioning

confidence: 99%

“…Moreover, measuring biotinidase activity in those with hepatic GSDs has been evaluated as it is higher than normal in individuals with hepatic GSDs for reasons that are not well understood 156 . Biotinidase activity is higher in individuals with elevated triglycerides and is below normal in individuals with liver fibrosis and cirrhosis 156 . Because of these associations, changes in biotinidase activity over time could signal a metabolic process (such as fatty acid synthesis or anomalies of gluconeogenesis) or worsening liver disease 156 .…”

Section: Diagnosis and Monitoringmentioning

confidence: 99%

“…Because of these associations, changes in biotinidase activity over time could signal a metabolic process (such as fatty acid synthesis or anomalies of gluconeogenesis) or worsening liver disease 156 . Further studies are needed to determine the role of biotinidase activity measurements in monitoring patients with hepatic GSD 156 .…”

Section: Diagnosis and Monitoringmentioning

confidence: 99%

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Glycogen storage diseases

Hannah,

Derks,

Drumm

et al. 2023

Nat Rev Dis Primers

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Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a defect in the synthesis or breakdown of glycogen. This Primer describes the multi-organ clinical features of hepatic GSDs and muscle GSDs, in addition to their epidemiology, biochemistry and mechanisms of disease, diagnosis, management, quality of life and future research directions. Some GSDs have available guidelines for diagnosis and management. Diagnostic considerations include phenotypic characterization, biomarkers, imaging, genetic testing, enzyme activity analysis and histology. Management includes surveillance for development of characteristic disease sequelae, avoidance of fasting in several hepatic GSDs, medically prescribed diets, appropriate exercise regimens and emergency letters. Specific therapeutic interventions are available for some diseases, such as enzyme replacement therapy to correct enzyme deficiency in Pompe disease and SGLT2 inhibitors for neutropenia and neutrophil dysfunction in GSD Ib. Progress in diagnosis, management and definitive therapies affects the natural course and hence morbidity and mortality. The natural history of GSDs is still being described. The quality of life of patients with these conditions varies, and standard sets of patient-centred outcomes have not yet been developed. The Nature Reviews Disease Primers | (2023) 9:46 2 0123456789();: Primer caused by genetic defects that are associated predominantly with abnormalities of glycogen metabolism and that are recognized in the literature as GSDs, namely, GSD 0a, GSD 0b, GSD I, Pompe disease, GSD III, GSD IV, GSD V, GSD VI, GSD VII, GSD IX, GSD X, GSD XI (lactate dehydrogenase sub unit A deficiency), GSD XII, GSD XIII, phosphoglucomutase 1 deficiency-congenital disorder of glycosylation (PGM1-CDG; previously called GSD XIV), GSD XV, Fanconi-Bickel syndrome (FBS) and phosphoglycerate kinase (PGK) deficiency. Of note, both lactate dehydrogenase subunit A deficiency and FBS are sometimes referred to as GSD XI in the literature. In this Review, GSD XI refers to lactate dehydrogenase subunit A deficiency, and FBS is referred to by eponym.GSDs seem to represent a phenotypic disease continuum. Compelling examples of this continuum include infantile-onset and late-onset Pompe disease and prenatal-onset GSD IV and adult-onset GSD IV, which is also known as adult polyglucosan body disease (APBD). For example, infantile-onset and late-onset Pompe disease have the same mechanism, which is accumulation of glycogen in lysosomes owing to variants in GAA that cause poor function of the GAA enzyme. The severity of disease and clinical manifestations differ between infantile-onset and late-onset disease owing to genotype-phenotype correlation.Owing to the similar disease mechanisms, the differences in severity and presentation reflect a continuum of one disease process. Understanding of the variable expressivity of these rare conditions improved with the identification of more patients with time, increased awareness and improved genetic testing (which...

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Section: Diagnosis and Monitoringmentioning

confidence: 99%

Section: Diagnosis and Monitoringmentioning

confidence: 99%

Section: Diagnosis and Monitoringmentioning

confidence: 99%

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Glycogen storage diseases

Hannah,

Derks,

Drumm

et al. 2023

Nat Rev Dis Primers

Self Cite

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“…Serum biotinidase activity is increased in GSD-Ia patients[ 76 - 79 ]. Biotinidase activity was reported to be positively correlated with hypertriglyceridemia in subjects with GSD-I while severe fibrosis and cirrhosis were related to reduced enzyme activity[ 80 ]. There may also be hypercalciuria[ 5 ].…”

Section: Gsds Involving Livermentioning

confidence: 99%

Glycogen storage diseases: An update

Gümüş¹,

Özen²

2023

World J Gastroenterol

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Glycogen storage diseases (GSDs), also referred to as glycogenoses, are inherited metabolic disorders of glycogen metabolism caused by deficiency of enzymes or transporters involved in the synthesis or degradation of glycogen leading to aberrant storage and/or utilization. The overall estimated GSD incidence is 1 case per 20000-43000 live births. There are over 20 types of GSD including the subtypes. This heterogeneous group of rare diseases represents inborn errors of carbohydrate metabolism and are classified based on the deficient enzyme and affected tissues. GSDs primarily affect liver or muscle or both as glycogen is particularly abundant in these tissues. However, besides liver and skeletal muscle, depending on the affected enzyme and its expression in various tissues, multiorgan involvement including heart, kidney and/or brain may be seen. Although GSDs share similar clinical features to some extent, there is a wide spectrum of clinical phenotypes. Currently, the goal of treatment is to maintain glucose homeostasis by dietary management and the use of uncooked cornstarch. In addition to nutritional interventions, pharmacological treatment, physical and supportive therapies, enzyme replacement therapy (ERT) and organ transplantation are other treatment approaches for both disease manifestations and long-term complications. The lack of a specific therapy for GSDs has prompted efforts to develop new treatment strategies like gene therapy. Since early diagnosis and aggressive treatment are related to better prognosis, physicians should be aware of these conditions and include GSDs in the differential diagnosis of patients with relevant manifestations including fasting hypoglycemia, hepatomegaly, hypertransaminasemia, hyperlipidemia, exercise intolerance, muscle cramps/pain, rhabdomyolysis, and muscle weakness. Here, we aim to provide a comprehensive review of GSDs. This review provides general characteristics of all types of GSDs with a focus on those with liver involvement.

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Long‐term personalized high‐protein, high‐fat diet in pediatric patients with glycogen storage disease type IIIa: Evaluation of myopathy, metabolic control, physical activity, growth, and dietary compliance

Kalkan Uçar,

Altınok,

Mansuroglu

et al. 2024

J of Inher Metab Disea

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Dietary lipid manipulation has recently been proposed for managing glycogen storage disease (GSD) type IIIa. This study aimed to evaluate the myopathic, cardiac, and metabolic status, physical activity, growth, and dietary compliance of a personalized diet high in protein and fat for 24 months. Of 31 patients with type IIIa GSD, 12 met the inclusion criteria. Of these, 10 patients (mean age 11.2 ± 7.4 years) completed the study. Patients were prescribed a personalized high‐protein, high‐fat diet, comprising 3.0–3.5 g/kg/day of protein and 3.0–4.5 g/kg/day of fat, constituting 18.5%–28% and 70.5%–75.7% of daily energy, respectively. Dietary compliance was ensured and assessed via the regular administration of questionnaires. Our results revealed consistent and significant decreases of 22%, 54%, and 30% in the creatinine kinase, creatine kinase–myocardial band, and lactate dehydrogenase levels, respectively. Echocardiography revealed improvements in the Z‐scores of the left ventricular mass and interventricular septum thickness. A significant increase in body muscle mass was observed, and a higher score was achieved using the Daily Activity Questionnaire. Growth monitoring revealed an arrest in the height‐SDS at the 6th and 12th months, followed by subsequent improvement at the end of the second year. A gradual and persistent decline in the periods of hypo‐ and hyperglycemia has been reported. Biotinidase activity decreased, whereas hepatosteatosis increased and then decreased by the end of the study. Implementing a high‐protein, high‐fat diet and monitoring key parameters in patients with type IIIa GSD can lead to myopathic and cardiac improvements and increased physical activity.

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Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?

Cited by 4 publications

References 28 publications

Glycogen storage diseases

Glycogen storage diseases

Glycogen storage diseases: An update

Long‐term personalized high‐protein, high‐fat diet in pediatric patients with glycogen storage disease type IIIa: Evaluation of myopathy, metabolic control, physical activity, growth, and dietary compliance

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