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15 Cards in this Set

  • Front
  • Back
failure of addition of mannose-6-phosphate to lysosome proteins- coarse facial features and restricted joint movement
I-cell disease
microtubule polymerization defect resulting in decreased phagocytosis
chediak-higashi syndrome
dynein arm defect, resulting in immobile cilia- bronchiesctasis, sinusitis, and situs inversus
Kartagener's syndrome
Failure to hydroxylate specific proline and lysine residues on collegen because of vit. c deficiency
Faulty collagen synthesis causeing hyperextensible skin, easy bruising, and hypermobile joints- associated w/ berry aneurysms
Ehlers-Danlos syndrome
Abnormal collagen synthesis, leading to multipel fractures and blue sclera, hearing loss, adn dental imperfections
Osteogenesis imperfecta
NADPH oxidase deficinecy- multiple infections b/c neutro9phils can't make superoxide
chronic granulomatous disease
Absence of glactose-1-phosphate uridyltransferase- cataracts, hpatosplenomegaly, mental retardation
defieciency of homogentisic acid oxidase in degadation of tyrosine- alkapton bodies turn urine black and connective tissue dark. arthralgias
defect of renal tubular amino acid transporter fro Cystine, Ornithine, Lysine, and Arginine (COLA)-cysteine kidney stones
Blocked degradation of branched amino acides (ile, val, leu) due to dec, alpha-ketoacid dehydrogenase- severe CNS defects, mental retardation, and death
Maple syrup urine desease
Adenoside deaminase deficiency-
HGPRTase deficiency- excess uric acid production, retardation, self=-mutilation, aggression, hyperuricemia, gout,
Lesch-Nyhan syndrome
Glucose-6-phosphate deficiency- hypoglycemia, inc glycogen in liver, hepatomegaly, inc blood lactate
Von Gierke's desease
Lysosomal alpha 1,4 glucosidase defiecieny- cardiomegaly and systemic findings , leading to death
Pompe's disease