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15 Cards in this Set
- Front
- Back
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MPS I
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"Hurler Syndrome"
Deficiency of L-Iduronidase MR & SC Accumulate: Dermatan & Heparan |
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MPS II
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"Hunter Syndrome"
X-LINKED Deficiency of Iduronate Sulfatase |
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MPS III
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"Sanfillipo Syndrome"
Deficiency in one of 4 enzymes Severe MR but NO SC |
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MPS IV
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"Marquio Syndrome"
Deficiency of Galactose-6-Sulfatase Accumulation of Keratan Normal intelligence SEVERE SC |
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Refsum's Disease
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PEROXISOMES
deficiency of Phytanoyl CoA alpha-hydroxylase demylinating neuropathy, night blindness |
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Gaucher Disease
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Autosomal Inheritance
Deficiency of glucocerebrocidase Treated with injection of glucocerebrocidase hepatosplenomegaly, NO CNS involvement, osteoporosis |
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Tay-Sach's Disease
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Deficiency of Hexoaminodase A
Accumulation of gangliosides, GM2 neurodegeneration, blindness, muscular weakness, seizures |
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Neimann-Pick Disease
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accumulation of sphingomyline
deficiency of sphingomylinase hepatosplenomegaly, neurodegeneration |
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I-Cell Disease
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deficiency so that lysosomal enzymes do not acquire signal (mannose-6-phosphate)
FIBROBLASTS (dense inclusion bodies) |
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Glycogen Storage Disease I
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"Von Gierke Disease"
Enzyme Defect: Glucose-6-phosphatase (gluconeogenesis) Glycogen Structure: normal Organs involved: liver kidney Charac: hypoglycemia, enlarged liver, lactic acidosis glucose-6-phosphate activates glycogen synthase b |
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Glycogen Storage Disease II
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"Pompe Disease"
Enzyme Defect: alpha-glucosidase Glycogen Structure: normal Organs involved: generalized Charac: Enlarged heart, cardiorespiratory failure |
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Glycogen Storage Disease III
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"Cori Disease"
Enzyme Defect glycogen debranching enzyme Glycogen Structure: short outer chains on FASTING Organs involved: generalized Charac: Enlarged liver, moderate hypoglycemia, acidosis |
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Glycogen Storage Disease IV
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"Andersen Disease"
Enzyme Defect: Glycogen branching enzyme Glycogen Structure: few branch points Organs involved: generalized Charac: cirrhosis, progressive liver failure |
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Glycogen Storage Disease V
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"McArdle Disease"
Enzyme Defect: muscle glycogen phosphorylase Glycogen structure: normal Organs involved: skeletal muscle Charac: muscle cramps |
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Glycogen Storage Disease VI
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"Hers Disease"
Enzyme defect: Liver glycogen phosphorylase Glycogen structure: normal Organs involved: liver Charac: enlarged liver, hypoglycemia, mild acidosis X-LINKED |
