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

doi:10.1016/j.jpedp.2014.08.002

Cited by 11 publications

(15 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: 77%

“…On the other hand, excessive UCCS intake may lead to obesity. 12 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: 77%

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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“…False hypetrophy is a cell volume increase due to an abnormal accumulation of molecules and components that normally should be properly eliminated before an evident storage occurs. Adipocyte hypertrophy can be defined false hypertrophy, but a number of other diseases may show false hypertrophy with evident increase in cell volume, in parallel with accumulation of abnormal molecular components, depending on type of disease ( Table 2) [71,74,[81][82][83][84][85][86][87][88][89][90]. In storage diseases accumulation occurs in cytoplasm (glycogen) or in lysosomes (mucopolysaccarides, complex lipids and other molecules) and in several neurodegenerative diseases poliglutaminic proteins accumulate into the cytosol as monomeric forms or as polymeric fibrils (Huntington disease, Parkinson disease, etc.)…”

Section: Hypoxia and Inflammation In Storage And Neurodegenerative DImentioning

confidence: 99%

One Special Question to Start with: Can HIF/NFkB be a Target in Inflammation?

Russo

Sansone²,

Carnevale³

et al. 2015

EMIDDT

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Hypoxia and Inflammation are strictly interconnected with important consequences at clinical and therapeutic level. While cell and tissue damage due to acute hypoxia mostly leads to cell necrosis, in chronic hypoxia, cells that are located closer to vessels are able to survive adapting their phenotype through the expression of a number of genes, including proinflammatory receptors for alarmins. These receptors are activated by alarmins released by necrotic cells and generate signals for master transcription factors such as NFkB, AP1, etc. which control hundreds of genes for innate immunity and damage repair. Clinical consequences of chronic inflammatory reparative response activation include cell and tissue remodeling, damage in the primary site and, the systemic involvement of distant organs and tissues. Thus every time a tissue environment becomes stably hypoxic, inflammation can be activated followed by chronic damage and cell death or repair with vessel proliferation and fibrosis. This pathway can occur in cancer, myocardial infarction and stroke, diabetes, obesity, neurodegenerative diseases, chronic and autoimmune diseases and age-related diseases. Interestingly, proinflammatory gene expression can be observed earlier in hypoxic tissue cells and, in addition, in activated resident or recruited leukocytes. Herewith, the reciprocal relationships between hypoxia and inflammation will be shortly reviewed to underline the possible therapeutic targets to control hypoxia-related inflammation in a number of epidemiologically important human diseases and conditions.

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“…Hypoglycemia and glycogen storage are the main reasons of the clinical findings and other biochemical abnormalities of the disease. [1][2][3] The hypoglycemia is the major problem in the GSD-1a patients. This problem is caused by fasting before surgery.…”

Section: Discussionmentioning

confidence: 99%

Anaesthetic Management of a Patient with Glycogen Storage Disease Type 1A

Özer¹

2018

Turkiye Klinikleri J Case Rep

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he glycogen-storage diseases (GSD) are a group of inherited disorders which result in deficiencies of enzymes involved in glycogen metabolism and lead to an accumulation of glycogen in the liver. GSD type 1a is a condition in which there is an abnormal deposit of glycogen and a hepatorenal deficiency of glucose-6-posphotase. GSD type 1a is a multisystem disorder with significant morbidity and mortality.The clinical features of the disease include hypoglycemia, lactic acidosis, hyperuricemia, hyperlipidemia, hyperproteinemia, hepatomegaly, truncal obesity, rounded ''dolllike'' face, growth retardation, muscle wasting and bleeding tendency (Figure 1). 1-3 Previous reports of anaesthesia in patients with this condition are limited, but indicate that serious complications may arise. More recently Huang detailed two cases in which the clinical course appeared satisfactory, but in both of them blood samples showed the presence of moderate and severe hypoglycemia during surgery. 4 From the anaesthetist's point of view; hypoglycemia and hepatic disfunction are the major problems to deal with GSD type1a patients at the perioperative period. 2-4 Moreover, difficulties in intubation and ventilation and aspiration risks are the other encountered problems in GSD patients during surgery. 2,3,5 The application of modern methods of management can correct or improve the clinical and biochemical features of GSD type 1a disease. If peri

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Glycogen storage disease type I: clinical and laboratory profile

Cited by 11 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

One Special Question to Start with: Can HIF/NFkB be a Target in Inflammation?

Anaesthetic Management of a Patient with Glycogen Storage Disease Type 1A

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