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