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10 Cards in this Set
- Front
- Back
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Gene defect and inheritance of alkaptonuria.
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AR; homogentisate dioxygenase gene
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What does the mutation in HGO lead to?
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deficiency of homogentisic acid oxidase -> accumulation of homogentisic acid in CT
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Skin findings in alkaptonuria
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blue grey pigmentation on nose, cheeks, cartilage and tendons; brown/black cerumen and sweat
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Part of eyes that are pigmented in alkaptonuria.
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blue-gray scleral pigment
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Name the muscular skeletal finding in alkaptonuria
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Severe arthropathy of the larger joints - hip, knee,shoulder, spine,
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Where can you find calcification in alkaptonuria?
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intervertebral disks
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PH of urine of alkaptouria
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>7; very dark
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Older patients with alkaptonuria are at increased incidence of what?
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MI; valvulitis
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Inheritance and gene defect in Fabry's disease.
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XLR; alpha-galactosidase A
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What does the defect lead to in Fabry's?
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defective activity of alpha gal -> accumulation of neutral Glycoshingolipids maihnly in vasc, endothelium and most tissue
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