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9 Cards in this Set
- Front
- Back
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Menkes disease is also known as:
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Ehlers-Danlos syndrome type IX, and kinky hair syndrome
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What is deficient in Menkes dz?
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copper is deficient due to a mutation in the ATP7A gene which encodes for the ATP-dependent copper transport protein in the intestine. The enzyme required for the cross-linking of collagen, lysyl oxidase, requires copper. Therefore, this is a defect in collagen fibril cross-linking.
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What is Wilson's dz?
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aka hepatolenticular degeneration. autosomal recessive. chrm 13. mutation in the copper transporter gene ATP7B (exports copper out of cells) causing an accumulation of copper in tissues (brain, liver, kidney, cornea, lenticulate nucleus)
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I-cell disease is aka:
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mucolipidosis II (MLII)
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What is the cause of I-cell dz?
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autosomal recessive - failure of enzymes to be normally transported to lysosomes from the golgi due to the lack mannose phosphorylation (due to a nonfunctioning N-acetylglucosamine-1-phosphotransferase). Without a mannose-6-phosphate singnal that directs them to the lysosomes, the enzymes are secreted to the extracellular space. Also, due to the lack of enzymes, waste products start building up inside the lysosomes (inclusion bodies).
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What is Hurler syndrome?
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aka mucopolysaccharidosis type I (MPSI). autosomal recessive. chrm 4. lysosomal storage dz. deficiency in alpha-L-iduronidase which causes the buildup of mucopolysaccharides
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What is Hunter syndrome?
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aka mucopolysaccharidosis type II (MPSII). X-linked. lysosomal storage dz. deficiency in iduronate-2-sulfatase (I2S) which causes a buildup of mucopolysaccharides, also known as glycosaminoglycans or GAG.
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Zellweger syndrome:
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aka cerebrohepatorenal syndrome. reduction or absence of peroxysomes in brain, liver, and kidney cells. therefore, patients cannot beta-oxydize very long chain fatty acids.
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alpha-1-antitrypsin deficiency:
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a1-antitrypsin is a serum protease inhibitor which protects tissues from enzymes of inflammatory cells (especially elastase). A mutation in the PI gene of chrm 14 causes a misfolding of antitrypsin whose deficiency leads to panacinar emphysema and cirrhosis.
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