Heterozygous defects in alpha 1-antitrypsin and low-density lipoprotein receptor. Simultaneous occurrence in a pediatric patient.
alpha 1-Antitrypsin is a serum protein protease inhibitor. The homozygous deficiency state for alpha 1-antitrypsin is associated with the development of chronic obstructive lung disease and liver cirrhosis. Familial hypercholesterolemia is a genetic defect in which the nonhepatic tissues of affected persons are partially or completely deficient in cellular receptors for low-density lipoproteins, the major plasma cholesterol transport protein. Homozygotes and heterozygotes for familial hypercholesterolemia experience premature coronary artery disease. We have identified a young patient who manifested heterozygous deficiencies for both of these gene products. The occurrence of these defects in tandem has not been previously reported.
D002648:Child; D002788:Cholesterol Esters / Q000096:biosynthesis; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics; D008077:Lipoproteins, LDL / Q000378:metabolism*; D008297:Male; D009829:Oleic Acids / Q000378:metabolism; D011956:Receptors, Cell Surface / Q000378:metabolism*; D011973:Receptors, LDL; D019896:alpha 1-Antitrypsin Deficiency
D002788:Cholesterol Esters; D008077:Lipoproteins, LDL; D009829:Oleic Acids; D011956:Receptors, Cell Surface; D011973:Receptors, LDL