block three diseases
Quiz yourself by thinking what should be in
each of the black spaces below before clicking
on it to display the answer.
Help!
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| Spinal Muscular Atrophy (SMA) | Symptoms: Muscle weakness/atrophy, hypotonia, dysphagia, RTI Mutated SMN -> defective snRNP -> defective splicing -> loss of motor neurons (SC/brainstem)
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| I-cell disease | Defective GlcNAc phosphotransferase --> no M6P tag sym: slow growth, psychomotor retardation, HSmegaly, valve defects, corneal clouding
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| Tuberculosis | interfers w/ Rab --> prevents phagolysosome formation (binding of phagosome to lysosome)
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| Hunter syndrome | deficiency of iduronodate sulphatase X-linked Physical/mental retardation, deafness, HSmegaly, chronic diarrhea, joint stiffness, (NO corneal clouding) onset: 2-4yr survival 30+yr
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| Hurler syndrome | deficiency of a-L-iduronidase accumulation of dermatan/heparan sulfate MR, deafness, HSmegaly, chronic diarrhea, joint stiffness, hirsutism, corneal clouding
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| Scheie & Hurler-Scheie syndrome | residual a-L-iduronidase
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| Sanfilippo syndrome | defect in heparan sulfate degradation AGGRESSION/MR, seizures, dementia
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| Morquio syndrome | deficient galactosamin-6 sulphatase or B-galactosidase --> accumulation of keratan sulfate Skeletal, deafness, NORMAL IQ
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| Gaucher's disease | deficiency of glucocerebrosidase accumulation of glucocerebroside organomegaly w/ bone marrow & CNS inflitration elongated/distended lysosomes
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| Pseudo-Hurler polydystrophy | partial function of GlcNAc -> mild I-cell dz
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| Chediak-Higashi syndrome | Mutant CHS1/LYST gene (lysosomal trafficking) delated phagolysosomal fusion autophagocytosis of melanosomes in melanocytes Granular defect in NK cells & Plts Albinism, chronic infections, coagulopathy,
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| Zellweger syndrome | Mutant PEX gene peroxins don't recognize SKL -> VLCFA accumulation in tissues Neuro(seizures, MR, hypotonia/reflexia) Dysmorphic (big forehead, hypertelorism) HSmegaly
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| XALD | defective transport of VLCFA into peroxisomes Accumulate in Brain & Adrenal cortex
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| Lamellar cristae located where? | hepatocyte, skeletal mm & SPERM "Lamar lifts (skeletal), drank (liver) and loved (SPERM) many bitches"
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| Tubular cristae located where? | Steroid secreting cells "its tubular to be huge"
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| Barth syndrome | X-linked mitochondrial disorder Defective Cardiolipin Chronic weakness, cardiomyopathy, neutropenia (high infant mortality)
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| Huntington's disease | NES is cleaved; inability to transport/nuclear membrane disorder
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| Rabies | Confusion, agitation, delirium, hallucination, hydrophobia/photophobia. Can cause encephalitis --> malaise, fever, headache. Virus ascends to CNS along peripheral nerves
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| Varicella Zoster | Dermatomal distribution. Lies dormant in DRG, travels down sensory nerves to skin
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| Familial MND | dynactin p150 subunit
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| Familial ALS | Superoxide dismutase 1 (SOD1)
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| Alzheimer's disease | Presinilin 1/2, a/B-amyloid precursor
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| Dilated Cardiomyopathy | Lamin A/C defect or Actin mutation
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