Glycogen storage disease type V

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Glycogen storage disease type V

HMBP

HMBP

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

Essential fructosuria

Hereditary fructose intolerance

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

Metachromatic leukodystrophy (NORD)

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)

Hartnup disease

Ornithine transcarbamylase deficiency

Phenylketonuria (NORD)

Cystinuria (NORD)

Maple syrup urine disease

Abetalipoproteinemia

Familial hypercholesterolemia

Hypertriglyceridemia

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

Cellular structure and function

Selective permeability of the cell membrane

Extracellular matrix

Cell-cell junctions

Endocytosis and exocytosis

Resting membrane potential

Nernst equation

Cytoskeleton and intracellular motility

Cell signaling pathways

Adrenoleukodystrophy (NORD)

Zellweger spectrum disorders (NORD)

Primary ciliary dyskinesia

Alport syndrome

Ehlers-Danlos syndrome

Osteogenesis imperfecta

Marfan syndrome

Vitamin C deficiency

Peroxisomal disorders: Pathology review

Nuclear structure

Transcription of DNA

Translation of mRNA

Gene regulation

Amino acids and protein folding

Protein structure and synthesis

Nucleotide metabolism

DNA replication

DNA damage and repair

Mitosis and meiosis

Lesch-Nyhan syndrome

Orotic aciduria

Adenosine deaminase deficiency

Xeroderma pigmentosum

Li-Fraumeni syndrome

McCune-Albright syndrome

Acute radiation syndrome

Purine and pyrimidine synthesis and metabolism disorders: Pathology review

Polymerase chain reaction (PCR) and reverse-transcriptase PCR (RT-PCR)

Gel electrophoresis and genetic testing

ELISA (Enzyme-linked immunosorbent assay)

Fluorescence in situ hybridization

Mendelian genetics and punnett squares

Hardy-Weinberg equilibrium

Inheritance patterns

Independent assortment of genes and linkage

Evolution and natural selection

Down syndrome (Trisomy 21)

Edwards syndrome (Trisomy 18)

Patau syndrome (Trisomy 13)

Fragile X syndrome

Huntington disease

Myotonic dystrophy

Friedreich ataxia

Turner syndrome

Klinefelter syndrome

Prader-Willi syndrome

Angelman syndrome

Beckwith-Wiedemann syndrome

Cri du chat syndrome

Williams syndrome

Alagille syndrome (NORD)

Polycystic kidney disease

Familial adenomatous polyposis

Hereditary spherocytosis

Multiple endocrine neoplasia

Neurofibromatosis

Tuberous sclerosis

von Hippel-Lindau disease

Cystic fibrosis

Hemochromatosis

Sickle cell disease (NORD)

Alpha-thalassemia

Beta-thalassemia

X-linked agammaglobulinemia

Muscular dystrophy

Wiskott-Aldrich syndrome

Mitochondrial myopathy

Autosomal trisomies: Pathology review

Muscular dystrophies and mitochondrial myopathies: Pathology review

Miscellaneous genetic disorders: Pathology review

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.