Glycogen storage disease: recommendations for treatment

Fernandes, J.; Leonard, James V.; Moses, Shimon; Odièvre, M; Rocco, Maja Di; Schaub, J.; Smit, Gerrit; Ullrich, Kurt; Durand, P.

doi:10.1007/bf00442683

Cited by 55 publications

(21 citation statements)

References 18 publications

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“…There are reports of an increase in triglycerides levels with MCTs. 83,84 Reduced bone mineral density has been reported in GSD III. 88 Muscle, metabolic, and dietary consequences may contribute to this bone abnormality.…”

Section: Infants and Young Children With Gsd Iiia And Iiibmentioning

confidence: 99%

“…The onset of myopathy (GSD IIIa only) occurs at an earlier age than was once thought; therefore, the importance of protein in the younger child's diet should not be overshadowed by a singular focus on carbohydrates. [83][84][85] A high protein diet may be beneficial in three ways: with gluconeogenesis intact, protein-derived alanine can be used as an alternate source for glucose during times of fasting; higher dietary protein intake may also improve muscle function by enhancing muscle protein synthesis; and by replacing some of the carbohydrates with protein, unnecessary glycogen storage may be reduced. The child with myopathy and growth failure should be started on a high protein diet.…”

Section: Infants and Young Children With Gsd Iiia And Iiibmentioning

confidence: 99%

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Glycogen Storage Disease Type III diagnosis and management guidelines

Kishnani

Austin

Arn

et al. 2010

Genetics in Medicine

242

282

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Section: Infants and Young Children With Gsd Iiia And Iiibmentioning

confidence: 99%

Section: Infants and Young Children With Gsd Iiia And Iiibmentioning

confidence: 99%

Glycogen Storage Disease Type III diagnosis and management guidelines

Kishnani

Austin

Arn

et al. 2010

Genetics in Medicine

242

282

View full text Add to dashboard Cite

“…Clinical pathology includes profound enlargement of the liver and kidneys because of excess glycogen accumulation, and shunting into alternative pathways results in hyperlipidemia, hyperuricemia, and lactic acidosis (Chen and Burchell, 1995;Chou et al, 2002;Wolfsdorf et al, 2003). Current therapy is palliative, with the aim of controlling hypoglycemia by providing continuous sources of glucose via frequent feedings, continuous overnight feeding by nasogastric tube, and/or oral administration of uncooked cornstarch or other starches (Chen et al, 1984;Smit et al, 1984Smit et al, , 1988Fernandes et al, 1988;Bhattacharya et al, 2007). Affected patients can now survive to adulthood, but long-term complications remain common, including hepatic adenomas, hepatocellular carcinoma, renal disease, gout, osteoporosis, and pulmonary hypertension (Smit et al, 1990;Mundy et al, 2003Mundy et al, , 2005Ozen, 2007).…”

Section: Introductionmentioning

confidence: 99%

Adeno-Associated Virus-Mediated Correction of a Canine Model of Glycogen Storage Disease Type Ia

et al. 2010

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Glycogen storage disease type Ia (GSDIa; von Gierke disease; MIM 232200) is caused by a deficiency in glucose-6-phosphatase-a. Patients with GSDIa are unable to maintain glucose homeostasis and suffer from severe hypoglycemia, hepatomegaly, hyperlipidemia, hyperuricemia, and lactic acidosis. The canine model of GSDIa is naturally occurring and recapitulates almost all aspects of the human form of disease. We investigated the potential of recombinant adeno-associated virus (rAAV) vector-based therapy to treat the canine model of GSDIa. After delivery of a therapeutic rAAV2/8 vector to a 1-day-old GSDIa dog, improvement was noted as early as 2 weeks posttreatment. Correction was transient, however, and by 2 months posttreatment the rAAV2/ 8-treated dog could no longer sustain normal blood glucose levels after 1 hr of fasting. The same animal was then dosed with a therapeutic rAAV2/1 vector delivered via the portal vein. Two months after rAAV2/1 dosing, both blood glucose and lactate levels were normal at 4 hr postfasting. With more prolonged fasting, the dog still maintained near-normal glucose concentrations, but lactate levels were elevated by 9 hr, indicating that partial correction was achieved. Dietary glucose supplementation was discontinued starting 1 month after rAAV2/1 delivery and the dog continues to thrive with minimal laboratory abnormalities at 23 months of age (18 months after rAAV2/1 treatment). These results demonstrate that delivery of rAAV vectors can mediate significant correction of the GSDIa phenotype and that gene transfer may be a promising alternative therapy for this disease and other genetic diseases of the liver.

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“…However, usual recommendations include high-carbohydrate frequent meals in the day and raw cornstarch or continuous feeding in the night (4), which prevent efficiently fasting hypoglycemia but do not influence usually the course of cardiac and muscular manifestations.…”

mentioning

confidence: 99%

Successful Treatment of Severe Cardiomyopathy in Glycogen Storage Disease Type III With D,L-3-Hydroxybutyrate, Ketogenic and High-Protein Diet

et al. 2011

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Glycogen storage disease type III (GSD III) due to debranching enzyme deficiency presenting usually with hepatomegaly and hypoglycemia may be responsible for severe cardiomyopathy which is often fatal. Current treatment of GSD III is based on frequent high-carbohydrate meals that have no effect on the cardiomyopathy. We describe a 2-mo-old infant presenting with a familial form of GSD III complicated with cardiomyopathy. As conventional treatment was unable to improve his sister's cardiomyopathy who was deceased at age 11 mo, we proposed an experimental treatment combining the use of synthetic ketone bodies (D,L-3-OH butyrate) as an alternative energy source, 2:1 ketogenic diet to reduce glucose intake and high-protein diet to enhance gluconeogenesis. Twentyfour months after the onset of this treatment, echocardiography showed an improvement of cardiomyopathy. Growth and liver size remained normal, and no side effects were observed. Blood glucose levels remained within the normal range and insulin levels decreased. These findings show that synthetic ketone bodies as well as lowcarbohydrate, high-lipid, and high-protein diet may be a more beneficial therapeutic choice therapeutic choice for GSD III patients with cardiomyopathy. These encouraging data need to be confirmed in more GSD III patients presenting with cardiac or muscular symptoms. (Pediatr Res 70: 638-641, 2011)

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Glycogen storage disease: recommendations for treatment

Cited by 55 publications

References 18 publications

Glycogen Storage Disease Type III diagnosis and management guidelines

Glycogen Storage Disease Type III diagnosis and management guidelines

Adeno-Associated Virus-Mediated Correction of a Canine Model of Glycogen Storage Disease Type Ia

Successful Treatment of Severe Cardiomyopathy in Glycogen Storage Disease Type III With D,L-3-Hydroxybutyrate, Ketogenic and High-Protein Diet

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