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Glycogen Storage Diseases

AB
Muscle phosphorylase b kinaseX-linked or autosomal recessive depending upon the subunit
symptoms similar to Type V, but may also have increasing generalized weakness w/ageMuscle phosphorylase b kinase
Phosphoglycerate kinaseSimilar to Type V, but with CNS dysfunction and hemolytic
Muscle phosphoglycerate mutaseSimilar to Type V but rare and most prevalent in African
Pyruvate kinase deficiencyMuscle cramps and persistent generalized muscle weakness;
Lactate dehydrogenase deficiencySimilar to Type V with erythematous skin eruptions and uterine stiffness, difficult childbirth
Phosphofructokinase-1 (PFK-1)Tauri's disease
Type VII:Phosphofructokinase-1 (PFK-1), Tauri's disease
Type VII: Most prevalent in Ashkenazi Jews and JapaneseLike Type V, but also with hemolytic anemia due to PFK-1
McArdle’s Disease enzymeMuscle Glycogen Phosphorylase
Limited ability to perform strenuous exercise, muscle crampingMcArdle's Disease (Type V)
McArdle's Disease Lab dataSerum CK elevated at rest, no increase in blood lactate with exercise50% have myoglobinuria,
Avoid strenuous exercise; increased protein in diet andMcArdle's disease tx
Pompe’s Disease enzymeLysosomal α-1,4-Glucosidase
Massive increase of glycogen within lysosomesPompe’s Disease histology
Characterized by persistent weakness not exercise inducedPompe’s Disease clinical
Muscle hypotonia and death, usually before age 2, from cardiorespiratory failurePompe’s Disease infantile
Prgssve skltl muscle hypotonia w/o wasting, swallowing/breathing difficulty early deathPompe’s Disease juvenile- no cardiac...
Slow onset muscle myopathy (20-70y) proximal weakness with postural muscles greatly affectedPompe’s Disease adult; initialsymptoms may be respiratory insufficiency
Pompe's disease txHigh protein diet shows some benefit to juvenile and adult, α-1,4-glucosidase replacement
Cori’s Disease enzymeAmylo-1,6-glucosidase ( debranching enzymes in liver and muscle)
fasting ketosis but normal resting serum lactate and uric acidCori's disease lab data
Cori's disease clinicalsever hypoglycemia, ketosis, hepato(nephro)megaly
increased # of short outer branches of glycogenCori's disease
Amylo-1,4, 1,6- transglucosidase ( brancher enzyme)Anderson's Disease
Progressive liver cirrhosis and ultimate failureAmylo-1,4, 1,6- transglucosidase ( brancher enzyme liver, spleen)
Tauri’s disease, Type VII GSDinhibition of the use of free glucose for energy production
dietary intake of glucose can alleviatesome of the muscle symptoms associated with GSDs ( not Type VII!)
lactose=galactose+glucose
sucrose=fructose+glucose
in skeletal muscle, GLUT4transports glucose across the cell membrane and glucose 6-phosphatase is absent
hemolytic anemiaTauri's disease



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