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61 Cards in this Set
- Front
- Back
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What are the 3 monophosphate purines that all interconvert with each other?
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-Guanylic acid
-Inosinic acid -Adenylic acid |
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What enzymes convert Adenine into Adenylic acid (AMP)?
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APRT/PRPP
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What can AMP then become?
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Either IMP (Inosinic acid) or Adenosine
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What converts Adenosine into Inosine?
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Adenosine Deaminase
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Waht can Inosine then make?
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Hypoxanthine
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What enzymes reconvert Hypoxanthine to IMP, or Guanine to GMP?
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HGPRT/PRPP (HGPRTase)
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If not reconverted by HGPRT/PRPP to IMP, what will hypoxanthine become?
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Xanthine and Uric acid
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What enzyme catalyzes breakdown of Hypoxanthine?
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Xanthine oxidase
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What are all these pathways called?
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Purine salvage pathways!
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What does lack of Adenosine deaminase cause?
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SCID
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Why does ADA deficiency cause scid?
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Because ATP and dATP build up, inhibit Ribonucleotide Reductase, and thus inhibit LYMPHOCYTE DNA synthesis.
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Why is SCID due to ADA deficiency notable?
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It was the first disease to be treated with experimental human gene therapy.
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What disease is caused by lack of HGPRTase?
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Lesch Nyhan Sydrome!
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How do you remember what Lesch Nyhan syndrome is?
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LACKS NUCLEOTIDE SALVAGE!!! LNS
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What is the result of lack of HGPRTase in LNS?
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Overproduction of uric acid by Xanthine oxidase
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What are 6 clinical features seen in Lesch Nyhan Syndrome?
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SCHRAG
-Self mutilation! -Choreoathetosis -Hyperuricemia -Retardation -Agression -GOUT |
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What are Glycogen storage diseases caused by and what do they all result in?
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Anormal glycogen metabolism
Result: ACCUMULATION of glycogen within cells! |
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How do you remember the 4 most important glycogen storage diseases?
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Very Poor Carb Metabolism
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Very Poor Carb Metabolism:
(what # corresponds) |
-Von Gierke's disease - type I
-Pompe disease - type II -Cori's disease - type III -McArdle's disease - type V |
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What are 4 major findings in Von Gierke's disease?
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-Severe fasting HYPOGLYCEMIA
-HIGH glycogen in LIVER -Increased blood LACTATE -Hepatomegaly |
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What enzyme is deficient in Von Gierke's?
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Glucose-6-phosphatase
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Which of the glycogen storage diseases is most COMMON?
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Von Gierke - type I
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What are the findings in Pompe disease?
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Cardiomegaly
Systemic findings leads to EARLY DEATH |
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What is the enzyme deficiency in Pompe disease?
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Lysosomal a-1,4-glucosidase
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What is Lysosomal a-1,4-glucosidase aka?
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Acid maltase
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How do you remember what is affected in Pompe?
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Pompe's trashes the PUMP - heart, liver, and muscle
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What are the significant findings in Cori's disease?
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-Like type I but milder
-Normal blood lactate levels |
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What is the enzyme deficiency in Cori's disease?
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Debranching enzyme a-1,6-glucosidase
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What is the enzyme deficiency in MCARDLE'S disease? Type V
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Skeletal muscle Glycogen Phosphorylase
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What does buildup of glycogen in muscle with the inability to break it down lead to?
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-Painful muscle cramps
-myoglobinuria with strenuous exercise |
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How do you remember what is affected in McArdle's?
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M stands for Muscle
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What are LYSOSOMAL storage diseases caused by?
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Deficiency in one of the many lysosomal enzymes!
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What are the 2 basic categories of Lysosomal storage diseases?
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-Sphingolipidoses
-Mucopolysaccharidoses |
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How many sphingolipidoses?
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6
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What are the Sphingoliposes?
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For Great Knights To Nite Meet
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What is For Great Knights to Nite Meet?
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-Fabry's disease
-Gaucher's disease -Niemann-Pick disease -Tay-Sach's disease -Krabbe's disease -Metachromatic leukodystrophy |
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What is the most COMMON sphingolipidose?
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Gaucher's disease
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What is the inheritence pattern of all sphingolipidoses? What is the exception?
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Autosomal recessive; EXCEPT Fabry - it is X-linked recessive
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Enzyme deficiency/accumulation in Fabry's disease:
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a-galactosidase A deficiency
Ceramide trihexoside accumulates |
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Findings in Fabry's:
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-Periph neuropathy of hands/feet
-Angiokeratomas -CV/Renal disease |
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Enzyme deficiency/accumulation in Gaucher's disease:
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B-glucocerebrosidase
Glucocerebroside accumulates |
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Findings in Gaucher's disease:
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-Hepatosplenomegaly
-Aseptic necrosis of Femer -Bone crises -Gaucher's cells (macrophages) |
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Enzyme deficiency/accumulation in Niemann-Pick disease:
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Sphingomyelinase
Sphingomyelin |
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Findings in Niemann-Pick
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-Progressive neurodegeneration
-Hepatosplenomegaly -Cherry-red spot on macula |
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Enzyme deficiency/accumulation in Tay-Sach's disease:
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-Hexosaminidase A
GM2 ganglioside accumulates |
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Findings in Tay-Sach's disease:
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-Progressive neurodegeneration
-Developmental delay -Cherry-red spot on macula -Lysozymes with onion skin! |
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Enzyme deficiency/accumulation in Krabbe's disease
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-B-galactosidase
Galactoscerebroside accumulates |
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Findings in Krabbe's disease
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-Peripheral neuropathy
-Developmental delay -Optic atrophy |
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Enzyme deficiency/accumulation in Metachromatic Leukodystrophy:
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-Arylsulfatase A
-Cerebroside sulfate accumulates |
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Findings in Metachromatic Leukodystrophy
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DEMYELINATION of CNS/PNS
Ataxia Dementia |
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What are the 2 mucopolysaccharidoses to know?
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Hurler's and Hunters!
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Which is autosomal recessive and which is X-linked recessive?
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Hurler's = AR
Hunter's = XR |
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What is the enzyme deficiency in Hurler's syndrome? What accumulates?
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a-L-Iduronidase
Heparan/Dermatan sulfates accumulate |
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What are the findings in Hurler's syndrome?
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-Developmental delay
-Gargoylism -Airway obstruction -Corneal clouding -Hepatosplenomegaly |
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Enzyme deficiency/accumulation in HUNTER'S syndrome:
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Iduronate Sulfatase
Heparan/Dermatan sulfates accumulate |
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What are the findings in Hunter's syndrome?
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Similar to Hurler's, but with aggressive behavior and NO corneal clouding
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Easy way to remember the enzyme deficiency in Niemann-Pick:
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No Man picks his nose with his SPHINGER (sphingomyelinase)
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Easy way to remember the enzyme deficiency in Tay-Sach's:
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Tay-SAX LAX HEXosaminidase A
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And what accumulates from lack of Hexosaminidase A?
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GM2 Ganglioside
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How do you remember which mucopolysaccharidosis is X-linked?
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Hunters aim for the X
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What population has increased incidence of Tay-Sachs, Neimann-Pick, and some Gaucher's?
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Ashkenazi jews
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