Pathology 3500 Lecture Notes - Lecture 9: Lysosomal Storage Disease, Phenylalanine, Dyslipidemia
Document Summary
Lysosomal storage diseases: tay-sachs disease, niemann-pick disease, acquired metabolic disorders, very common, related to abnormal glucose metabolism (diabetes mellitus, related to dyslipidemia and other factors (atherosclerosis) Phenylketonuria (pku: rare, inherited disorder that causes phenylalanine buildup in the body, 1/12,000 live births (white > other, autosomal recessive, commonest variant: severe deficiency of phenylalanine hydroxylase (pah), leading to increased phenylalanine. Galactosemia: autosomal recessive disorder, affects 1 in 60,000 live births. Jaundice and hepatomegaly become evident in the first week of life. Lysosomes are key components of the intracellular digestive system: they contain hydrolytic enzyme that are used to degrade substrates into small diffusible end products. Acquired metabolic diseases: lifestyle and dietary habits, atherosclerosis, diabetes mellitus (type 2, exposure to pollutants or toxins (hypoxia, co, cyanide, carbon disulfide, secondary to renal or liver disease, hepatic encephalopathy, renal osteodystrophy. Insulin: anabolic function (increases synthesis and decreases degradation of glycogen, lipid and protein, most potent anabolic hormone known.
