LDL transport defect; increase LDL synthesis, xanthomas, premature artherosclerosis; treated with statin drugs; patient presents with normal weight
Hexosaminidase A (Chrom 19)
Accumulation of GM2 gangliosides; Ashkenazic Jews; balooning of neurons with whorled lysosomes on EM; cherry-red spot; death by 3 years of age; motor and mental retardation
11p15.4
Sphingomyelinase accumulation in RES, CNS and eye; death by second year of life; cherry-red spot; ballooning of neurons; protuberant abdomen
Glucocerebrosidase deficiency
Adult onset; acute inflammatory cytokine secretion; glucocerebroside accumulation in mononuclear RES phagocytes; PAS+macrophages with wrinkled tissue paper cytoplasm
autosomal recessive; alpha-1-iduronidase deficiency; corneal clouding; hepatosplenomegaly by 2 years of age; growth retardation; death by 6 to 10 years of age
X-linked recessive; no corneal clouding; life expectancy into the 20s; mucopolysaccharide accumulation
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