Glycogen storage disease type V
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Glycogen storage disease type V
Pathology SEM-4
Pathology SEM-4
Free radicals and cellular injury
Necrosis and apoptosis
Ischemia
Hypoxia
Amyloidosis
HIV (AIDS)
Ataxia-telangiectasia
Isolated primary immunoglobulin M deficiency
Hyper IgM syndrome
X-linked agammaglobulinemia
Scleroderma
Sjogren syndrome
Graft-versus-host disease
Transplant rejection
Down syndrome (Trisomy 21)
Patau syndrome (Trisomy 13)
Edwards syndrome (Trisomy 18)
Fragile X syndrome
Huntington disease
Friedreich ataxia
Turner syndrome
Klinefelter syndrome
Prader-Willi syndrome
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
Niemann-Pick disease types A and B (NORD)
Niemann-Pick disease type C
Gaucher disease (NORD)
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Polymerase chain reaction (PCR) and reverse-transcriptase PCR (RT-PCR)
ELISA (Enzyme-linked immunosorbent assay)
Gel electrophoresis and genetic testing
Karyotyping
Fluorescence in situ hybridization
DNA cloning
Nuclear structure
DNA structure
Transcription of DNA
Translation of mRNA
Gene regulation
Amino acids and protein folding
Epigenetics
Cell cycle
DNA mutations
DNA replication
Atrophy, aplasia, and hypoplasia
Hyperplasia and hypertrophy
Metaplasia and dysplasia
Oncogenes and tumor suppressor genes
Inflammation
Wound healing
Shock
Tay-Sachs disease (NORD)
Leukodystrophy
Metachromatic leukodystrophy (NORD)
Fabry disease (NORD)
Lysosomal storage disorders: Pathology review
Glycogen storage disorders: Pathology review
Flashcards
Glycogen storage disease type V
0 of 11 complete
Questions
USMLE® Step 1 style questions USMLE
0 of 3 complete
A 20-year-old man comes to the emergency department with painful muscle spasms. He reports that after starting a run, he experiences muscle cramps and fatigue, but these symptoms tend to improve after about 10 minutes of continued activity. His past medical history includes a right knee ACL tear. His temperature is 37.0°C (98.6°F), pulse is 80/min, respirations are 16/min, and blood pressure is 125/75 mmHg. Abdominal examination is unremarkable. Rapid fingerstick glucose is 80 mg/dL. Serum creatine kinase levels are elevated. Laboratory investigations are shown below:
Electrocardiogram and echocardiogram are unremarkable. Which of the following is the most likely diagnosis?
| 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?
Key Takeaways
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.