University · Medicine · Medical Biochemistry and Genetics

Biochemical Basis of Inherited Metabolic Disorders

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How single-gene enzyme or transporter defects disrupt amino acid, carbohydrate, and lipid metabolism -- illustrated through phenylketonuria, glycogen storage diseases, lysosomal storage disorders, and urea cycle defects -- as a model for genotype-to-phenotype reasoning in medicine.

Inhaltsübersicht

  • General Principles of Inborn Errors of Metabolism
  • Disorders of Amino Acid and Urea Cycle Metabolism
  • Disorders of Carbohydrate and Glycogen Metabolism
  • Lysosomal Storage Disorders and General Treatment Strategies
Illustration of newborn screening for inborn errors of metabolism using dried blood spot testing
Pixabay – Pixabay License

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