| A | B |
|---|
| Muscle phosphorylase b kinase | X-linked or autosomal recessive depending upon the subunit |
| symptoms similar to Type V, but may also have increasing generalized weakness w/age | Muscle phosphorylase b kinase |
| Phosphoglycerate kinase | Similar to Type V, but with CNS dysfunction and hemolytic |
| Muscle phosphoglycerate mutase | Similar to Type V but rare and most prevalent in African |
| Pyruvate kinase deficiency | Muscle cramps and persistent generalized muscle weakness; |
| Lactate dehydrogenase deficiency | Similar 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 Japanese | Like Type V, but also with hemolytic anemia due to PFK-1 |
| McArdle’s Disease enzyme | Muscle Glycogen Phosphorylase |
| Limited ability to perform strenuous exercise, muscle cramping | McArdle's Disease (Type V) |
| McArdle's Disease Lab data | Serum CK elevated at rest, no increase in blood lactate with exercise50% have myoglobinuria, |
| Avoid strenuous exercise; increased protein in diet and | McArdle's disease tx |
| Pompe’s Disease enzyme | Lysosomal α-1,4-Glucosidase |
| Massive increase of glycogen within lysosomes | Pompe’s Disease histology |
| Characterized by persistent weakness not exercise induced | Pompe’s Disease clinical |
| Muscle hypotonia and death, usually before age 2, from cardiorespiratory failure | Pompe’s Disease infantile |
| Prgssve skltl muscle hypotonia w/o wasting, swallowing/breathing difficulty early death | Pompe’s Disease juvenile- no cardiac... |
| Slow onset muscle myopathy (20-70y) proximal weakness with postural muscles greatly affected | Pompe’s Disease adult; initialsymptoms may be respiratory insufficiency |
| Pompe's disease tx | High protein diet shows some benefit to juvenile and adult, α-1,4-glucosidase replacement |
| Cori’s Disease enzyme | Amylo-1,6-glucosidase ( debranching enzymes in liver and muscle) |
| fasting ketosis but normal resting serum lactate and uric acid | Cori's disease lab data |
| Cori's disease clinical | sever hypoglycemia, ketosis, hepato(nephro)megaly |
| increased # of short outer branches of glycogen | Cori's disease |
| Amylo-1,4, 1,6- transglucosidase ( brancher enzyme) | Anderson's Disease |
| Progressive liver cirrhosis and ultimate failure | Amylo-1,4, 1,6- transglucosidase ( brancher enzyme liver, spleen) |
| Tauri’s disease, Type VII GSD | inhibition of the use of free glucose for energy production |
| dietary intake of glucose can alleviate | some of the muscle symptoms associated with GSDs ( not Type VII!) |
| lactose= | galactose+glucose |
| sucrose= | fructose+glucose |
| in skeletal muscle, GLUT4 | transports glucose across the cell membrane and glucose 6-phosphatase is absent |
| hemolytic anemia | Tauri's disease |
