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GLYCOGEN STORAGE DISEASE TYPE VII

Specialty Definition: GLYCOGEN STORAGE DISEASE TYPE VII

DomainDefinition

Health

An autosomal recessive muscle glycogen storage disease in which there is deficient expression of muscle phosphofructokinase activity, resulting in increased concentrations of glucose-6-phosphate and fructose-6-phosphate and low concentrations of fructose-1,6-diphosphate in muscle tissue. Glycogen storage in muscle is increased, perhaps due to activation of glycogen synthase by accumulated glucose-6-phosphate. It has been proposed that shunting of glucose-6-phosphate and fructose-6-phosphate into the pentose phosphate pathway may result in increased synthesis of purines and pyrimidines, causing hyperuricemia and gout. Erythrocytes from patients may show decreased phosphofructokinase activity and 2,3-diphosphoglycerate deficiency. Exercise intolerance is present and severe congenital muscular dystrophy has been reported. (references)

Source: compiled by the editor from various references; see credits.

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Alternative Orthography: GLYCOGEN STORAGE DISEASE TYPE VII


Hexadecimal (or equivalents, 770AD-1900s) (references)

47 4C 59 43 4F 47 45 4E      53 54 4F 52 41 47 45      44 49 53 45 41 53 45      54 59 50 45      56 49 49

Leonardo da Vinci (1452-1519; backwards) (references)

                

Binary Code (1918-1938, probably earlier) (references)

01000111 01001100 01011001 01000011 01001111 01000111 01000101 01001110 00100000 01010011 01010100 01001111 01010010 01000001 01000111 01000101 00100000 01000100 01001001 01010011 01000101 01000001 01010011 01000101 00100000 01010100 01011001 01010000 01000101 00100000 01010110 01001001 01001001

HTML Code (1990) (references)

&#71 &#76 &#89 &#67 &#79 &#71 &#69 &#78 &#32 &#83 &#84 &#79 &#82 &#65 &#71 &#69 &#32 &#68 &#73 &#83 &#69 &#65 &#83 &#69 &#32 &#84 &#89 &#80 &#69 &#32 &#86 &#73 &#73

ISO 10646 (1991-1993) (references)

0047 004C 0059 0043 004F 0047 0045 004E      0053 0054 004F 0052 0041 0047 0045      0044 0049 0053 0045 0041 0053 0045      0054 0059 0050 0045      0056 0049 0049

Encryption (beginner's substitution cypher): (references)

41465937494139482535449523541392384353393553392545950392564343

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INDEX

1. Orthography
2. Bibliography


  

Copyright © Philip M. Parker, INSEAD. Terms of Use.