Abetalipoproteinemia
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Abetalipoproteinemia
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
Abetalipoproteinemia
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High Yield Notes
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Flashcards
Abetalipoproteinemia
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Memory Anchors and Partner Content
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Abetalipoproteinemia p. 92, 422
Ataxia
abetalipoproteinemia p. 92
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Summary
Abetalipoproteinemia is a rare, autosomal recessive disorder in which the body is unable to absorb fats and fat-soluble vitamins from the diet. It typically presents in early childhood with steatorrhea (fatty feces), abdominal distension, and failure to thrive. Later on, it may progress to peripheral neuropathy, and vision impairment, especially night blindness. The diagnosis of Abetalipoproteinemia involves clinical findings and serum lipid analysis. The treatment focuses on limiting fat-rich diets, and supplementation of fat-soluble vitamins.
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