PHYS 799 Chapter Notes - Chapter 9: Glycogen Storage Disease Type V, Glycogen Storage Disease Type Ii, Hepatosplenomegaly
22 Apr 2019
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* bolded text and tables were called out as need to know or were comments added by dr. Lysosomal storage diseases: commonalities, autosomal recessive transmission, storage of insoluble intermediates in the mononuclear phagocyte system . Infants and young children hepatosplenomegaly: frequent cns involvement, cellular dysfunction, tay-sachs - inability to metabolize gm2gangliosides due to lack of the subunit of lysosomal hexosaminidase. Gm2 gangliosides accumulate in the cns and cause severe mental retardation, blindness, motor weakness, and death by 2 to 3 years of age. Cherry red macula: niemann-pick - deficiency of sphingomyelinase. Type a (severe)- accumulation of sphingomyelin causes neuronal damage. Lipid stored in phagocytes in liver, spleen, bone marrow, and lymph nodes. In type b, neuronal damage is not present: niemann-pick disease type c - defect in cholesterol transport and resultant accumulation of cholesterol and gangliosides in the nervous system.
