Glycogen storage disease type V
2,162views
Videos
Notes
Glycogen storage disease type V
Biochemistry
Biochemistry and metabolism
Glycolysis
Citric acid cycle
Electron transport chain and oxidative phosphorylation
Gluconeogenesis
Glycogen metabolism
Pentose phosphate pathway
Physiological changes during exercise
Amino acid metabolism
Nitrogen and urea cycle
Fatty acid synthesis
Fatty acid oxidation
Ketone body metabolism
Cholesterol metabolism
Metabolic disorders
Essential fructosuria
Hereditary fructose intolerance
Galactosemia
Pyruvate dehydrogenase deficiency
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Lactose intolerance
Glycogen storage disease type I
Glycogen storage disease type II (NORD)
Glycogen storage disease type III
Glycogen storage disease type IV
Glycogen storage disease type V
Leukodystrophy
Metachromatic leukodystrophy (NORD)
Krabbe disease
Gaucher disease (NORD)
Niemann-Pick disease types A and B (NORD)
Niemann-Pick disease type C
Fabry disease (NORD)
Tay-Sachs disease (NORD)
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Cystinosis
Hartnup disease
Alkaptonuria
Ornithine transcarbamylase deficiency
Phenylketonuria (NORD)
Cystinuria (NORD)
Homocystinuria
Maple syrup urine disease
Abetalipoproteinemia
Familial hypercholesterolemia
Hypertriglyceridemia
Hyperlipidemia
Disorders of carbohydrate metabolism: Pathology review
Disorders of fatty acid metabolism: Pathology review
Dyslipidemias: Pathology review
Glycogen storage disorders: Pathology review
Lysosomal storage disorders: Pathology review
Disorders of amino acid metabolism: Pathology review
Assessments
Glycogen storage disease type V
Flashcards
0 / 11 complete
USMLE® Step 1 questions
0 / 3 complete
High Yield Notes
7 pages
Flashcards
Glycogen storage disease type V
of complete
Questions
USMLE® Step 1 style questions USMLE
of complete
| Serum | |
| Sodium | 140 mEq/L |
| Potassium | 4 mEq/L |
| Creatinine | 1.3 mg/dL |
| Creatine kinase | 645 U/L |
| Urine | |
| BUN/Cr | <15 |
| Blood | Positive |
| Erythrocytes | 0/hpf |
| Leukocytes | 2/hpf |
| Fractional excretion of sodium (FENa) | >2% |
Electrocardiogram and echocardiogram are unremarkable. Which of the following is the most likely diagnosis?
Memory Anchors and Partner Content
External References
First Aid
2022
2021
2020
2019
2018
2017
2016
Arrhythmias
McArdle disease p. 85
McArdle disease p. 85
Myoglobinuria
McArdle disease p. 85
External Links
Summary
Glycogen storage disease type V, also known as McArdle's disease, is a glycogen metabolism disorder in which an enzyme known as muscle phosphorylase (myophosphorylase) is deficient. Muscle phosphorylase is necessary to break down glycogen stored in muscles into usable glucose. People with Glycogen storage disease type V can present with rhabdomyolysis, myoglobinuria, exercise intolerance, and muscle weakness.
Copyright © 2023 Elsevier, except certain content provided by third parties
Cookies are used by this site.
USMLE® is a joint program of the Federation of State Medical Boards (FSMB) and the National Board of Medical Examiners (NBME). COMLEX-USA® is a registered trademark of The National Board of Osteopathic Medical Examiners, Inc. NCLEX-RN® is a registered trademark of the National Council of State Boards of Nursing, Inc. Test names and other trademarks are the property of the respective trademark holders. None of the trademark holders are endorsed by nor affiliated with Osmosis or this website.
