Glycogen storage disease type I
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Glycogen storage disease type I
Genetics
Population genetics
Mendelian genetics and punnett squares
Hardy-Weinberg equilibrium
Inheritance patterns
Independent assortment of genes and linkage
Evolution and natural selection
Genetic disorders
Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)
Fragile X syndrome
Huntington disease
Myotonic dystrophy
Friedreich ataxia
Turner syndrome
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Beckwith-Wiedemann syndrome
Cri du chat syndrome
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Gaucher disease (NORD)
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
Hemochromatosis
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Krabbe disease
Leukodystrophy
Niemann-Pick disease types A and B (NORD)
Niemann-Pick disease type C
Primary ciliary dyskinesia
Phenylketonuria (NORD)
Sickle cell disease (NORD)
Tay-Sachs disease (NORD)
Alpha-thalassemia
Beta-thalassemia
Wilson disease
Fragile X syndrome
Alport syndrome
X-linked agammaglobulinemia
Fabry disease (NORD)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Hemophilia
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Lesch-Nyhan syndrome
Muscular dystrophy
Ornithine transcarbamylase deficiency
Wiskott-Aldrich syndrome
Mitochondrial myopathy
Autosomal trisomies: Pathology review
Muscular dystrophies and mitochondrial myopathies: Pathology review
Miscellaneous genetic disorders: Pathology review
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Glycogen storage disease type I
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Glucose-6-phosphatase
Von Gierke disease p. 85
Gout p. 477
Von Gierke disease p. 85
Hepatomegaly
Von Gierke disease p. 85
Hypoglycemia
Von Gierke disease p. 85
Triglycerides
Von Gierke disease p. 85
Uric acid
Von Gierke disease p. 85
Von Gierke disease p. 85
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Viviana Popa, MDGlycogen storage disease type I, also called Von-Gierke’s disease, is a genetic disorder caused by a mutation in the glucose 6 phosphatase gene on chromosome 17.
The end result is that glycogen can’t be broken down into glucose in liver cells, so glucose metabolism goes awry, resulting in symptoms like low blood sugar, weakness and poor growth.
Glucose is such an important energy source, that our body stores excess glucose in liver cells and skeletal muscle cells in the form of glycogen.
Glycogen is basically an enormous molecule or polymer, that’s made up of glucose molecules linked together by glycosidic bonds.
And glycogen has a main chain, as well as multiple branches sprouting off of it.
These branches allow glycogen to be compact and also allow it to rapidly add and remove glucose to and from the big glycogen molecule.
Talk about a molecular sugar rush!
Now, glucose molecules are usually added to glycogen in response to insulin, which is secreted by the pancreas after meals.
That’s when there’s high blood sugar, or plenty of glucose floating around in the bloodstream.
So, it makes sense for some of this glucose to be stored as glycogen, right?
Now when it’s been a while after a meal, so when you’re fasting, blood sugar levels take a dip. In response, the pancreas secretes glucagon and the adrenal glands secrete epinephrine.
It turns out that glucagon tells the liver cells to break glycogen down into individual glucose molecules, and epinephrine tells skeletal muscle cells to do the same.
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