Glycogen storage disease type I: clinical and laboratory profile

Santos, Berenice Lempek dos; Souza, Carolina Fischinger Moura de; Schüler‐Faccini, Lavínia; Refosco, Lı́lia Farret; Epifânio, Matias; Nalin, Tatiéle; Vieira, Sandra Maria Gonçalves; Schwartz, Ida Vanessa Döederlein

doi:10.1016/j.jped.2014.02.005

Cited by 23 publications

(32 citation statements)

References 21 publications

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“…The results of this evaluation showed that 10 of 13 patients were classified as obese according to percentage of ideal body weight for length percentile. Similar findings were described by Santos et al 17 in a cross-sectional study that evaluated patients with GSD I treated with UCCS, z scores of BMI for age showed that 16 of 21 patients were overweight. Short stature has also been reported by several authors as common problems in the hepatic GSD.…”

Section: Discussionsupporting

confidence: 88%

“…However, studies suggest that the carbohydrate overload for treatment can contribute not only to excess weight 5,10,12,34 but also to better height scores in these patients. 17,18 Although our treated patients had a short stature, suggesting that the use of UCCS does not heal the low height.…”

Section: Discussionmentioning

confidence: 73%

“…There are several reports of overweight in patients with hepatic GSDs, particularly in GSD Ia, 9,16,17 however, the etiology of this finding remains incompletely elucidated. On the one hand, dietary treatment with a complex carbohydrate can reduce the risk of short-term and long-term complications, 18 on the other hand, it could be associated with overweight and, eventually, excess adiposity.…”

Section: Introductionmentioning

confidence: 99%

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Nutritional Status and Body Composition in Patients With Hepatic Glycogen Storage Diseases Treated With Uncooked Cornstarch—A Controlled Study

Santos

Nalin

Castro

et al. 2017

Journal of Inborn Errors of Metabolism and Screening

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Hepatic glycogen storage diseases (GSDs) are genetic diseases associated with fasting hypoglycemia. Periodic intake of uncooked cornstarch is one of the treatment strategies available for those disorders. For reasons that are still not clear, patients with hepatic GSDs may be overweight. Aims: To assess nutritional status and body composition in patients with hepatic GSDs receiving uncooked cornstarch. Methods: The sample included 25 patients with hepatic GSD (type Ia ¼ 14; Ib ¼ 6; III ¼ 3; IXa ¼ 1; IXb ¼ 1), with a median age of 11.0 years (interquartile range [IQR] ¼ 9.0-17.5), matched by age and gender with 25 healthy controls (median age ¼ 12.0 years, IQR ¼ 10.0-17.5). Clinical, biochemical, and treatment-related variables were obtained from medical records. Nutritional status and body composition were prospectively evaluated by bioelectrical impedance. Results: Patients and controls did not differ with regard to age and gender. Height was significantly reduced in patients (median ¼ 1.43 m, IQR ¼ 1.25-1.54) in comparison to controls (median ¼ 1.54 m, IQR ¼ 1.42-1.61; P ¼ .04). Body mass index for age z-score and fat mass percentage were higher in patients (median ¼ 1.84, IQR ¼ 0.55-3.06; and 27.5%, IQR ¼ 22.6-32.0, respectively) than in controls (median ¼ 0.86, IQR ¼ À0.55 to 1.82; P ¼ .04 and 21.1%, IQR ¼ 13.0-28.3; P ¼ .01, respectively). When patients were stratified by type, those with GSD Ia had significantly higher adiposity (median fat mass ¼ 28.7%, IQR ¼ 25.3-32.9) than those with GSD III and GSD IXa/b (median fat mass ¼ 20.9%, IQR ¼ 14.9-22.6; P ¼ .02). Conclusions: Our findings suggest that patients with hepatic GSD on treatment with cornstarch, especially those with GSD Ia, exhibit abnormalities in nutritional status and body composition, such as short stature and a trend toward overweight and obesity.

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Section: Discussionsupporting

confidence: 88%

Section: Discussionmentioning

confidence: 73%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Nutritional Status and Body Composition in Patients With Hepatic Glycogen Storage Diseases Treated With Uncooked Cornstarch—A Controlled Study

Santos

Nalin

Castro

et al. 2017

Journal of Inborn Errors of Metabolism and Screening

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“…GSD-I results in a defect in the glucose-6-phosphatase system, which is required for the hydrolysis of glucose-6-phosphate into glucose and inorganic phosphate [7,8], impairing free glucose availability during fasting and glucose homeostasis with consequent hypoglycemia. The clinical onset of GSD-I usually occurs in the first year of life, during complementary feeding, with symptoms related to severe fasting hypoglycemia, hepatomegaly, failure to thrive and growth retardation.…”

Section: Introductionmentioning

confidence: 99%

Proteobacteria Overgrowth and Butyrate-Producing Taxa Depletion in the Gut Microbiota of Glycogen Storage Disease Type 1 Patients

et al. 2020

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A life-long dietary intervention can affect the substrates’ availability for gut fermentation in metabolic diseases such as the glycogen-storage diseases (GSD). Besides drug consumption, the main treatment of types GSD-Ia and Ib to prevent metabolic complications is a specific diet with definite nutrient intakes. In order to evaluate how deeply this dietary treatment affects gut bacteria, we compared the gut microbiota of nine GSD-I subjects and 12 healthy controls (HC) through 16S rRNA gene sequencing; we assessed their dietary intake and nutrients, their microbial short chain fatty acids (SCFAs) via gas chromatography and their hematic values. Both alpha-diversity and phylogenetic analysis revealed a significant biodiversity reduction in the GSD group compared to the HC group, and highlighted profound differences of their gut microbiota. GSD subjects were characterized by an increase in the relative abundance of Enterobacteriaceae and Veillonellaceae families, while the beneficial genera Faecalibacterium and Oscillospira were significantly reduced. SCFA quantification revealed a significant increase of fecal acetate and propionate in GSD subjects, but with a beneficial role probably reduced due to unbalanced bacterial interactions; nutritional values correlated to bacterial genera were significantly different between experimental groups, with nearly opposite cohort trends.

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“…Hypertension was found in 3 out of 11 patients with microalbuminuria, which might suggest that hypertension did not play a role in the glomerular injury observed in the remaining cases. One third of the patients had short stature which can be linked to poor metabolic control ( 21 ). The relation between obesity and microalbuminuria has been demonstrated in hypertensive and/or diabetic patients ( 22 ).…”

Section: Discussionmentioning

confidence: 99%

Kidney and Metabolic Phenotypes in Glycogen Storage Disease Type-I Patients

et al. 2020

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Patients and Methods: A retrospective chart review of 32 GSD-I patients, followed at the American University of Beirut Medical Center, between 2007 and 2018 was conducted. Diagnosis was confirmed by enzymatic and/or genetic studies. Clinical presentation, growth, and kidney outcome were assessed. All patients were evaluated for body mass index, blood parameters of metabolic control including uric acid, alanine, lactic acid, and triglycerides in blood. Kidney evaluation included creatinine clearance, microalbuminuria, citraturia, and calciuria as well as urine microalbumin/creatinine ratio. Results: Almost one third of GSD-I patients developed microalbuminuria. This was detected below 7 months of age in 36% of patients who required early treatment with ACEI with significant reduction in albuminuria. Kidney stones were present in 6% and were associated with hypercalciuria and hypocitraturia. Poor metabolic control reflected by hyperuricemia, lactic acidosis, and hyperalaninemia were noted only in patients who developed microalbuminuria. Conclusion: Glomerular injury may appear in early infancy in poorly controlled patients. Adequate metabolic control and ACEI therapy may improve kidney outcome in GSD I patients. Plasma alanine appears to be a promising and reliable marker reflecting metabolic control in GSD-I patients.

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Glycogen storage disease type I: clinical and laboratory profile

Cited by 23 publications

References 21 publications

Nutritional Status and Body Composition in Patients With Hepatic Glycogen Storage Diseases Treated With Uncooked Cornstarch—A Controlled Study

Nutritional Status and Body Composition in Patients With Hepatic Glycogen Storage Diseases Treated With Uncooked Cornstarch—A Controlled Study

Proteobacteria Overgrowth and Butyrate-Producing Taxa Depletion in the Gut Microbiota of Glycogen Storage Disease Type 1 Patients

Kidney and Metabolic Phenotypes in Glycogen Storage Disease Type-I Patients

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