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Glycogen Storage Diseases
Transcript of Glycogen Storage Diseases
Eastern Washington University Glycogen Storage Disease An umbrella term encompassing many metabolic disorders where there is an absence or deficiency of one of the the enzymes responsible for either making or breaking down glycogen. What is it? A QUICK REVIEW WHAT IS AN ENZYME?
Enzymes increase the rate of chemical reactions without altering the reaction
WHAT IS GLYCOGEN?
A very large polymer composed of glucose molecules connected together mainly stored in the liver and muscle tissue
WHAT IS GLUCOSE?
An important substrate for cellular energy metabolism that is obtained from several sources (most commonly diet) and obtained through a process called glycolysis Type I- Von Gierke Disease What does glycolysis look like A more symplified version 10-12 different types
classified based on the enzyme deficiency and by the affected tissue
Types that effect the liver
I, III, IV, VI
Types that affect the skeletal muscle
Type II affects nearly all organs, including the heart
Overall incidence 1 in 20,000-43,000 More on GSD Most common types in children Type II- Pompe's Disease Type III- Cori's Disease Type VI- Hers' Disease Review of most common types found in children Type I (Von Gierke's disease) Absence or deficiency in glucose-6-phosphatase in liver
Characterized by hepatomegaly, renomegaly, lactic acidosis, hyperuricemia, hyperlipidemia, and/or hypoglycemic seizures
Diagnosis around 3-4 mo
Present with doll-like faces with fat cheeks, thin extremities, short stature and protuberant abdomen Most common types found in children Type II (Pompe) Deficiency of acid alpha-glucosidase
Presents with hyptonia, muscle weakness, cardiomegaly, hypertrophic cardiomyopathy, respiratory distress
Presents with motor delay, slow progressive muscle weakness (can look like DMD) Most common types in children Type III (Cori's Disease) Deficiency in the debranching enzyme, aka glucosyltransferase and glucosidase 4 subtypes: a,b,c,d Presents with hepatomegaly, hetotic hypoglycemia, and hypertrophic cardiomyopathy in early infancy; slowly progressive proximal muscle weakness begins in 3rd and4th decade. Most common types in children Type VI (Hers' Disease) Deficiency of hepatic glycogen phosphorylase LIVER Characterized by hepatomegaly, growth retardation, abdominal distension, and ketotic hypoglycemia Is often caught after an illness where prolonged fasting has occurred. Treatment for GSD For types I, III, VI: Euglycemia!
Monitor blood glucose
Strict dietary supplementation
Small frequent meals high in protien
Medications to treat side effects such as renal and hepatic disease For type II:
PT plays a much bigger role PT implications:
Low activity tolerance
Watch for signs and symptoms of hypoglycemia
Have a snack on hand Treatment of Type II Guidelines from the American College of Medical Genetics:
Individualized care of cardiomyopathy
Physical therapy for muscle weakness, range of motion, and ambulation
Surgery for contractures as needed
Respiratory support (CPAP, BiPAP, and/or tracheostomy) Enzyme replacement can delay need for ventilatory support and prolong functional mobility LaPier, 2012 1. Dr Tanya LaPier. Oct 2011. Metabolic and energy systems. Eastern Washington University. 2. Glycogen Storage Disease. Cincinnati Children's. http://www.cincinnatichildrens.org/health/g/gsd/. Updated November 2011. Accessed February 5, 2013. References 3. Chen M. Glycogen Storage Diseases. In: Monga S, ed. Molecular pathology of liver diseases. New York: Springer; 2011: 677-681. 4. Bali DS, Chen YT, Goldstein JL. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2010 Dec 23]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1312/ 5. Tinkle BT, Leslie N. Glycogen Storage Disease Type II (Pompe Disease) 2007 Aug 31 [Updated 2010 Aug 12]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1261/ 6. Dagli A, Sentner CP, Weinstein DA. Glycogen Storage Disease Type III. 2010 Mar 9 [Updated 2012 Sep 6]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from: http://www.ncbi.nlm.nih.gov/books/NBK26372/ 7. Dagli AI, Weinstein DA. Glycogen Storage Disease Type VI. 2009 Apr 23 [Updated 2011 May 17]. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from: http://www.ncbi.nlm.nih.gov/books/NBK5941/ References