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5 Cards in this Set
- Front
- Back
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Leber's hereditary optic neuropathy (LHON)
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Progressive optic nerve degeneration that results clinically in blindness. 50% of cases involve the ND4 gene on mtDNA (missense mutation Arg -> His). Protein product is subunit 4 of the NADH dehydrogenase complex (ETC protein).
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Kearns-Sayre syndrome
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Ophthalmoplegia (degeneration of the motor nerves of the eye), pigmentary degeneration of the retina, and ocmplete heart block, short stature, and cerebellar ataxia.
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Chediak-Higashi syndrome
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Neutropenia and impaired phagocytosis of bacteria due to a defect in microtubule polymerization that impairs lysosomal function fo leukocytes. See large abnormal lysosomes can be observed in the cytoplasm of leukocytes in people with this syndrome.
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Von Gierke disease (type 1 glycogenosis)
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Deficiency in glucose-6-phosphatase --> enlarged liver and severe hypoglycemia
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McArdle disease (type V glycogenosis)
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Deficiency in muscle glycogen phosphrylase --> exercise-induced muscle pain and cramps.
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