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"storage iron"¿¡ ´ëÇÑ °Ë»ö °á°úÀÔ´Ï´Ù. °Ë»ö °á°ú º¸´Â µµÁß¿¡ Tab ۸¦ ´©¸£½Ã¸é °Ë»ö âÀÌ ¼±Åõ˴ϴÙ.
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¿µ¹® iron ÇÑ±Û Ã¶
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  ±Ý¼Ó¿ø¼Ò. ±âÈ£ Fe. ¿øÀÚ¹øÈ£ 26. Ç÷»ö¼Ò¿Í cytochrome, ±âŸ È£Èí±â °èÅëÀÇ È¿¼Ò¸¦ ±¸¼ºÇϴ Áß¿äÇÑ ¿ø¼ÒÀÌ´Ù.
¿µ¹® iron deficiency anemia ÇÑ±Û Ã¶°áÇ̺óÇ÷
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  ÀûÇ÷±¸ÀÇ ±â´ÉÀº »ê¼Ò¸¦ ¿î¹ÝÇϴµ¥ ÀÖ´Ù. ÀûÇ÷±¸ ¼Ó¿¡ »ê¼Ò¿Í °áÇÕÀ» ÇÏ¿© »ê¼Ò¸¦ ¿î¹ÝÇϴ Ç÷»ö¼Ò¶ó´Â ¹°ÁúÀÌ ÀÖ´Ù. Ã¶Àº ÀÌ Ç÷»ö¼ÒÀÇ Áß¿äÇÑ ºÎºÐÀ» ÀÌ·ç´Â °ÍÀ¸·Î Ã¶ÀÌ ¾øÀ¸¸é Ç÷»ö¼Ò°¡ ¸¸µé¾îÁú ¼ö°¡ ¾ø´Ù. Ç÷»ö¼Ò°¡ ¾øÀ¸¸é ¿ª½Ã ÀûÇ÷±¸µµ ¸¸µé¾îÁöÁö ¾ÊÀ¸¹Ç·Î Ã¼³»¿¡ Ã¶ÀÌ ºÎÁ·Çϸ頺óÇ÷ÀÌ »ý±ä´Ù. À̠ö°áÇ̼º ºóÇ÷Àº ºóÇ÷ÀÇ ¿øÀΠÁß¿¡¼­ °¡Àå ÈçÇÑ °ÍÀÌ´Ù(¾à 25%¸¦ Â÷ÁöÇÑ´Ù). Ã¶ÀúÀå·®ÀÇ ÀúÇÏ-°áÇÌ, Ç÷ûö³óµµÀÇ ÀúÇÏ, Æ®¶õ½ºÆä¸°·® »ó½Â, Æ®¶õ½ºÆä¸°Æ÷È­µµÀÇ ÀúÇÏ, Ç÷»ö¼Ò³óµµ ¶Ç´Â Ç츶ÅäÅ©¸®Æ®ÀÇ ÀúÇÏ, Àú»ö¼Ò¼º´ëÀûÇ÷±¸¸¦ Æ¯Â¡À¸·Î Çϴ ºóÇ÷·Î¼­, »ýü ³»¿¡¼­ Ã¶ÀÌ Àå±â¿¡ °ÉÃÄ °áÇ̵Ǹ砱נ¶§¹®¿¡ Ç÷»ö¼Ò »ý»ê °¨¼Ò¿¡ ÀÇÇØ ÀϾ´Ù. Ã¢ÀÚ¿¡¼­ÀǠöÈí¼ö·® ºÎÁ·, Ã¶ÀÇ ¼ö¿ä Áõ´ë(À¯¾Æ±â, »çÃá±â, ÀÓ½Å), Ã¶¼Ò½Ç°úÀ×(ÃâÇ÷)¿¡ ÀÇÇØ ÀϾ¸ç, Æ¯È÷ »çÃá±â¿¡¼­ Æó°æ±â±îÁöÀÇ ¿©¼º¿¡°Ô ¸¹´Ù. Áõ»óÀ¸·Î¼­´Â ¾ó±¼Ã¢¹é, ÇǷΰ¨, ÇǺÎâ¹é, ¼ÕÅé º¯È­(½ºÇ¬ ¸ð¾ç) µîÀ» ³ªÅ¸³½´Ù. ±¸°­ ¿µ¿ª¿¡¼­´Â ÇôÀÇ Á¢ÃËÅë, ¹ßÀû, °ÇÁ¶°¨, »ïÅ´°ï¶õÀ» ¼ö¹ÝÇϸé Ç÷¯¸Ó-ºó½¼(Plummer-Vinson)ÁõÈıºÀ̶ó°í ÇÑ´Ù. Ç÷¾× ¼Ò°ßÀº Ç÷ûöÀº ÀúÇÏÇϸç, Ã¶°áÇÕ´É·ÂÀÇ »ó½Â, Àú»ö¼Ò¼º ÀÛÀºÀûÇ÷±¸¼ºÀ» ³ªÅ¸³½´Ù.
´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö ¸ÂÃã °Ë»ö °á°ú : 1 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • storage iron
    ˜ˌ̦
´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • iron-storage disease
    öÃàÀûÁúȯ
  • copper storage disease
    ±¸¸®ÃàÀûº´
  • cystine storage disease
    ½Ã½ºÆ¾ÃàÀûº´
  • cholesteryl ester storage disease
    ÄÝ·¹½ºÅ×·Ñ¿¡½ºÅ׸£ÃàÀûº´
  • glycogen storage disease
    ±Û¸®ÄÚ°ÕÃàÀûº´, ´ç¿øÃàÀûº´
  • lipid storage disease
    ÁöÁúÃàÀûº´
  • lysosomal storage disease
    ¿ëÇØ¼ÒüÃàÀûº´, ¸®¼ÒÁ»ÃàÀûº´
  • phytanic acid storage disease
    ÇÇź»êÃàÀûº´
  • storage
    1. ÃàÀû 2. º¸Á¸, ÀúÀå 3. ±â¾ïÀåÄ¡
  • storage disease
    ÃàÀûº´
  • storage-type
    ÃàÀûÇü
  • virtual storage
    °¡»ó±â¾ïÀåÄ¡
  • iron
    ö
  • iron binding protein
    ö°áÇմܹéÁú
  • iron chelation
    öų·¹ÀÌÆ®È­
´ëÇÑÀÇÇù Çʼö ÀÇÇпë¾îÁý »çÀü °Ë»ö ¸ÂÃã °Ë»ö °á°ú : 1 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • storage iron
    ˜ˌ̦
´ëÇÑÀÇÇù Çʼö ÀÇÇпë¾îÁý »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 7 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • storage disease
    ÃàÀûº´
  • storage-type
    ÃàÀûÇü
  • storage
    ÃàÀû, º¸Á¸, ÀúÀå
  • iron deficiency anemia
    ö°áÇ̺óÇ÷
  • total iron binding capacity
    ÃÑö°áÇÕ´É
  • iron
    ö
  • iron requirement
    ö¿ä±¸·®, öÇʿ䷮
¿¾ ´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö ¸ÂÃã °Ë»ö °á°ú : 1 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • storage iron
    ˜ˌ̦
¿¾ ´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • copper storage disease
    ±¸¸®ÀúÀ庴
  • cystine storage disease
    ½Ã½ºÆ¾ÃàÀûº´
  • glucose storage disease
    ´çÃàÀûº´
  • glycogen storage disease
    ´ç¿øÃàÀûº´
  • lipid storage disease
    ÁöÁúÃàÀûº´
  • lysosomal storage disease
    ¸®¼Ò¼ØÃàÀûº´, ¿ëÇØ¼ÒüÃàÀûº´
  • neuronal storage disease
    ½Å°æ¼¼Æ÷ÀúÀ庴
  • storage disease
    ÃàÀûº´
  • storage
    ÃàÀû, º¸Á¸, ÀúÀå
  • storage-type
    ÃàÀûÇü
  • stock organism storage
    º¸Á¸¼¼±ÕÀúÀå
  • virtual storage
    °¡»ó±â¾ïÀåÄ¡
  • iron deficiency anemia
    ö°áÇ̺óÇ÷
  • triple sugar iron agar
    »ï´çö¿ì¹«
  • iron chelation
    öų·¹ÀÌÆ®È­
¿¾ ´ëÇÑÀÇÇù 2 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • Dorfman-Chanarin syndrome = neutral lipid storage disease
    Áß¼ºÁö¹æÃàÀûÁõ
  • glucose storage disease
    ´çÃàÀûÁúȯ.
  • glycogen storage disease
    ±Û¸®ÄÚ°ÕÃàÀû Áúȯ.
  • glycogen storage disease
    ´ç¿ø ÃàÀûÁúȯ(ÓØê«õëîÝòðü´)
  • glycogen storage disease
    ±Û¸®ÄÚ°ÕÃàÀûÁúȯ
  • image storage
    ¿µ»óÀúÀå<--ÃàÀû
  • Heidenhain s iron hematoxylin stain
    ÇÏÀ̵§ÇÏÀΠö Ç츶Åå½Ç¸° ¿°»ö¹ý.
  • IBC= iron binding capacity
    ö°áÇÕ´É.
  • Iron
    ö(ôÑ)
  • Iron deficiency anemia
    ö°áÇ̼ººóÇ÷(ôÑÌÀù¹àõÞ¸úì)
  • Iron sulfide
    Ȳȭö(üÜûùôÑ)
  • Perls iron test
    Æä¸¦Áîö½ÃÇè
  • TIBC => total iron binding capacity
    ÃÑö°áÇÕ´É
  • UIBC => unsaturated iron binding capacity
    ºÒÆ÷ȭö°áÇÕ´É
  • anemia iron deficiency
    ö°áÇ̼º ºóÇ÷.
¿¾ ´ëÇÑÀÇÇù 3 ÀÇÇпë¾î »çÀü °Ë»ö ¸ÂÃã °Ë»ö °á°ú : 1 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • storage iron
    ˜ˌ̦
¿¾ ´ëÇÑÀÇÇù 3 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • ceroid storage disease
    ¼¼·ÎÀ̵åÃàÀûÁúȯ.
  • copper storage disease
    µ¿ÀúÀåÁúȯ(ÔÞîÍíúòðü´).
  • cystine storage disease
    ½Ã½ºÆ¾(ÃàÀû)º´ (¡­õëîÝÜ»).
  • food storage
    ½ÄǰÀúÀå.
  • glucose storage disease
    ´çÃàÀûÁúȯ.
  • glycogen storage disease
    ±Û¸®ÄÚ°ÕÃàÀûÁúȯ
  • glycogen storage disease
    ±Û¸®ÄÚ°ÕÃàÀû Áúȯ.
  • glycogen storage disease
    ´ç¿ø ÃàÀûÁúȯ(ÓØê«õëîÝòðü´)
  • image storage
    ¿µ»óÀúÀå<--ÃàÀû
  • lipid storage disease
    ÁöÁúÃàÀûÁõ
  • lipid storage disease
    ÁöÁúÃàÀûÁõ.
  • lysosomal storage diseaes
    ¸®¼Ò¼Ø¼º ÃàÀûº´(¡­ õëîÝÜ»)
  • lysosomal storage disease
    ¸®¼Ò¼Ø ÃàÀûÁõ
  • neuronal storage disease
    ½Å°æ¼¼Æ÷¼ºÀúÀåÁúȯ(¡­á¬øààõîÍíúòðü´)
  • stock organism storage
    º¸Á¸¼¼±ÕÀúÀå
´ëÇѱâ»ýÃæÇÐȸ ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 1 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • iron-hematoxylin stain
    öÇ츶Åå½Ç¸°¿°»ö
´ëÇÑ»ýÈ­ÇкÐÀÚ»ý¹°ÇÐȸ ¿ë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • glycogen storage disease
    ±Û¶óÀÌÄÚÀü ÀúÀå Áúȯ(îÍíúòðü´)
  • lipid storage disease
    ÁöÁúÀúÀåÁúȯ(ò·òõîÍíúòðü´)
  • lysosomal storage disease
    ¶óÀ̼ÒÁ»³»(Ò®) ÀúÀåÁúȯ(îÍíúòðü´)
  • mucopolysaccharide storage disease
    ¹ÂÄÚ´Ù´çÁú(ÒýÓØòõ)ÀúÀåÁúȯ(îÍíúòðü´)
  • phytanic acid storage syndrome
    ÇÇź»ê(ß«) ÃàÀû ÁõÈıº(õëîÝñøý¦ÏØ)
  • storage mRNA
    ÀúÀå(îÍíú) mRNA
  • heme iron
    Èûö(ôÑ)
  • high-potential iron protein
    °íÀüÀ§(ÍÔï³êÈ) ö´Ü¹éÁú(ôÑÓ±ÛÜòõ)
  • iron-binding globulin
    ö°áÇÕ(ôÑÌ¿ùê) ±Û·Îºí¸°
  • iron porphyrin
    ö(ôÑ)Æ÷¸£ÇǸ°
  • iron protein
    ö´Ü¹éÁú(ôÑÓ±ÛÜòõ)
  • iron-sulfur cluster
    ö-À¯È²(ôÑ×¼üÜ) ¹¶Ä¡
  • iron-sulfur protein
    ö-À¯È² ´Ü¹éÁú(ôÑ×¼üÜÓ±ÛÜòõ)
  • latent iron-binding capacity
    ÀáÀçö°áÇÕ´É(íÖî¤ôÑÌ¿ùêÒö)
  • low-potential iron protein
    ÀúÀüÀ§ ö´Ü¹éÁú(î¸ï³êÈôÑÓ±ÛÜòõ)
KI ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 11 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • iron
    ö
  • iron deficiency anemia
    ö°áÇ̼ººóÇ÷
  • iron effect
    öȿ°ú
  • glycogen storage disease
    ±Û¸®ÄÚ°Õ ÃàÀûÁúȯ
  • long-term storage
    Àå±âÀúÀå(ÀåÄ¡)
  • short-term storage
    ´Ü±âÀúÀå(ÀåÄ¡)
  • storage
    ÃàÀû, º¸Á¸, ÀúÀå
  • storage disease
    ÃàÀûÁõ
  • storage oscilloscope
    ÀúÀå½Ä¿À½Ç·Î½ºÄÚÇÁ
  • storage tube
    ÀúÀå°ü
  • virtual storage
    °¡»ó±â¾ïÀåÄ¡
KMLE ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 1
IDA   1) Imino-Diacetic Acid
  2) Iron Deficiency Anemia
   &nb...
DASD Direct Access Storage Device
  = RAM
SPD Storage Pool Disease
CESD cholesterol ester storage disease
CSC blow on blow (administration of small amounts of drugs at short intervals) [Fr. coup sur coup]; coll...
KMLE ÀÚµ¿ÃßÃâ ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 1
CESD Cholesterol ester storage disease
GSD Glycogen Storage Disease
GSDII Glycogen Storage Disease type II
GSD 1a Glycogen storage disease type 1a
GSD I Glycogen storage diseases type I
°æºÏ´ë Ä¡°ú´ëÇÐ ±¸°­³»°ú ±³½Ç »çÀü À¯»ç °Ë»ö °á°ú : 10 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
    ¼³¸í
  • iron
    ö
    1. ±âÈ£ Fe, ¿øÀÚ ¹øÈ£ 26, ¿øÀÚ·® 55.847ÀÎ ±Ý¼Ó ¿ø¼ÒÀÇ ÇÑ °¡Áö. ±â°è, ¼±¹Ú, °ÇÃà, ÀÏ¿ëǰ µûÀ§. ¿ëµµ°¡ ³Ð°í ±Ý¼Ó Áß¿¡¼­ °¡Àå À¯¿ëÇÏ´Ù. 2. Áö±¸»ó¿¡ ³Î¸® ºÐÆ÷Çϳª ´ëºÎºÐÀº È­ÇÕ¹° ÇüÅ·ΠÁ¸Àç. Áß¿äÇÑ »ý¿ø¼ÒÀÇ Çϳª·Î Çì¸ð±Û·ÎºóÀ̳ª »çÀÌÅäÅ©·Ò µîÀÇ È°¼º Áß½ÉÀ» ±¸¼ºÇÏ¿© »ýü Áß¿¡ ¾à 0.01%°¡ Á¸ÀçÇÑ´Ù.
  • iron deficiency anemia
    ö °áÇ̼º ºóÇ÷
    1. Àú»ö¼Ò¼º, ¼Ò±¸¼º ÀûÇ÷±¸¼º ºóÇ÷ÀÇ ´ëÇ¥Àû Áúȯ. öÀÇ °áÇÌ¿¡ ÀÇÇÏ¿© Ç÷»ö¼ÒÀÇ »ý¼ºÀÌ ÃæºÐÈ÷ ÇàÇÏ¿©ÁöÁö ¾Ê±â ¶§¹®¿¡ ÀûÇ÷±¸ ¼öº¸´Ùµµ Ç÷»ö¼Ò ³óµµ°¡ ÇöÀúÇÏ°Ô °¨¼ÒÇÑ´Ù. 2. ö ÀúÀå·®ÀÇ ÀúÇÏ, °áÇÌ, Ç÷û ö ³óµµÀÇ ÀúÇÏ, transferrin¾ç »ó½Â, transferrin Æ÷È­µµÀÇ ÀúÇÏ, Àú»ö¼Ò¼º ´ëÀûÇ÷±¸¸¦ Ư¡À¸·Î ÇÏ´Â ºóÇ÷.
  • iron metabolism
    ö ´ë»ç
    °¡ ÀÌ¿ÂÀÇ ÇüÅ·ΠÀ§ ¹× ½ÊÀÌÁöÀå »óºÎ¿¡¼­ Èí¼öµÈ öÀº ½ÊÀÌÁöÀå Á¡¸·ÀÇ ´Ü¹éÁú ¾ÆÆ÷Æä¸®Ä£°ú °áÇÕÇÏ¿© Æä¸®Ä£À¸·Î ÀúÀåµÈ´Ù. Ç÷Àå Áß¿¡ öÀÌ °¨¼ÒÇϸé Ç÷ÁßÀ¸·Î ȯ¿ø ö·Î¼­ ¹æÃâµÇ¾î Ç÷Àå Áß¿¡ Æ®·£½ºÆä¸°À̶ó°í Çϴ ƯÁ¤ÀÇ Ã¶ °áÇÕ¼º ´Ü¹é°ú °áÇÕÇÏ¿© À̵¿ÇÑ´Ù. ÀϺδ °£Àå, ºñÀåÀÇ ¸Á³»°è ¼¼Æ÷¿¡ ÀúÀåµÈ´Ù.
  • iron-deposit
    ̦ ̈˞
  • lipid storage
    Áö¹æ ÀúÀå
    Áö¹æ ¼¼Æ÷°¡ ´ã´çÇÏ´Â ±â´ÉÀ¸·Î ü³»¿¡ Èí¼öµÈ Áö¹æÀº ų·Î¹ÌÅ©·ÐÀÇ ÇüÅ·Πü¼øÈ¯À» ÇÏ°Ô µÇ¸ç, Áö¹æ Á¶Á÷ÀÇ ¸ð¼¼Ç÷°ü¿¡ À̸£¸é ³»ÇÇ ¼¼Æ÷ÀÇ ´çÁöÁú ¸®ÆÄ¾ÆÁ¦ÀÇ ÀÛ¿ëÀ¸·Î À¯¸® Áö¹æ»ê°ú ´Ü´ç·ù·Î ºÐÇØµÇ¾î Áö¹æ ¼¼Æ÷¿¡ ÀÇÇØ ´Ü¼ø È®»êÀ¸·Î ¼·ÃëµÈ´Ù. ÀÌ Áö¹æ»êÀº Áö¹æ ÇÕ¼º È¿¼Ò¿¡ ÀÇÇÏ¿© Áß¼º Áö¹æÀ¸·Î ÇÕ¼ºµÇ¸ç Áö¹æ ºÐÇØ È¿¼Ò¸¦ ¾ïÁ¦ÇÏ¿© Áö¹æÀ» ÃàÀû½ÃŲ´Ù.
  • neuronal storage disease
    ½Å°æ ÃàÀûÁõ
  • serum iron
    Ç÷û ö
    Ç÷û ³»¿¡ Á¸ÀçÇϴ ö.
  • storage
    ÃàÀû, º¸Á¸, ÀúÀå
    Ä¡°ú º¸Ã¶ ¿µ¿ª¿¡¼­´Â °¡Ã¶ ÀÇÄ¡ÀÇ ºÐ½Ç, ÆÄ¼Õ, ¹× º¯ÇüÀ» ¿¹¹æÇϱâ À§ÇÏ¿© ¾ÈÀüÇÑ Àå¼ÒÀÎ ¹° ¼Ó¿¡ µÎ´Â °Í.
  • storage of drug
    ¾à¹°ÀÇ º¸°ü
  • storage pool disease
    ÀúÀåÁ¶º´
    ÀÀÁýÁ¦, ¿¡Çdz×ÇÁ¸°, ¿ÜÀμº ADP, Æ®·Òºó µî¿¡ ¹ÝÀÀÇÏ¿© ADP¸¦ ¹æÃâÇÏ´Â Ç÷¼ÒÆÇ ±â´É ºÎÀü¿¡ ÀÇÇÑ Ç÷¾× ÀÀ°í Àå¾Ö, °¡º­¿î ÃâÇ÷ Áõ»ó, ÃâÇ÷ ½Ã°£ Áö¿¬, ±³¿øÁúÀ̳ª Æ®·Òºó¿¡ ´ëÇÑ ÀÀÁý ¹ÝÀÀÀÇ °¨Å𸦠Ư¡À¸·Î ÇÑ´Ù.
CancerWEB ¿µ¿µ ÀÇÇлçÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
iron-storage disease The storage of excess iron in the parenchyma of many organs, as in idiopathic haemochromatosis or transfusion haemosiderosis.
(05 Mar 2000)
iron-storage protein <chemical> Soluble iron storage protein from e coli; different from ferritin and haemosiderin
(05 Dec 1998)
brancher glycogen storage disease Type of glycogen storage disease, due to deficiency of amylo-1,4-1,6-transglucosidase (brancher enzyme).
Synonym: brancher deficiency glycogenosis, debrancher deficiency.
(05 Mar 2000)
glycogen storage disease <hepatology> A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalised storage of glycogen occurs, sometimes with prominent cardiac involvement.
Synonym: glycogenosis
(12 Sep 2002)
glycogen storage disease type I <disease> An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycaemia due to lack of glucose production.
Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.
Inheritance: autosomal recessive.
(12 Dec 1998)
glycogen storage disease type II <disease> Glycogenosis due to alpha-1,4-glucosidase (acid maltase) deficiency. It affects muscle, heart, and other organs.
(12 Dec 1998)
glycogen storage disease type III <disease> An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system).
The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups type IIIa and type IIIb being the most prevalent.
Inheritance: autosomal recessive
(12 Dec 1998)
glycogen storage disease type IV <disease> An autosomal recessive metabolic disorder due to a deficiency in expression of branching enzyme (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal glycogen with long outer branches. Clinical features are muscle hypotonia and cirrhosis. Death from liver disease usually occurs before age 2.
Inheritance: autosomal recessive
(12 Dec 1998)
glycogen storage disease type V <disease> Glycogenosis due to muscle phosphorylase deficiency. Characterised by painful cramps following sustained exercise.
Inheritance: autosomal recessive
(12 Dec 1998)
glycogen storage disease type VI <disease> A hepatic glycogen storage disease in which there is an apparent deficiency of hepatic phosphorylase activity. However, studies have not been able to distinguish between phosphorylase deficiency and phosphorylase kinase deficiency in patients with hepatic glycogenosis.
(12 Dec 1998)
glycogen storage disease type VII <disease> 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 hyperuricaemia 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.
Inheritance: autosomal recessive
(12 Dec 1998)
glycogen storage disease type VIII <disease> An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon.
Inheritance: X-linked recessive
(12 Dec 1998)
cholesterol ester storage disease A rare benign adult form of inherited lysosomal lipid storage disease that is due to deficiency of acid lipase. It results in an accumulation of neutral lipids, particularly cholesterol esters, within cells (particularly leukocytes, fibroblasts, and liver cells). It is an allelic variant of wolman disease.
(12 Dec 1998)
phytanic acid storage disease A genetic disorder of the fatty acid phytanic acid which accumulates and causes a number of progressive problems including polyneuritis (inflammation of numerous nerves), diminishing vision (due to retinitis pigmentosa), and wobbliness (ataxia) caused by damage to the cerebellar portion of the brain (cerebellar ataxia).
(12 Dec 1998)
computer storage devices Devices capable of receiving data, retaining data for an indefinite or finite period of time, and supplying data upon demand.
(12 Dec 1998)
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