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"dihydrobiopterin synthetase deficiency"¿¡ ´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 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 À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • glutathione synthetase
    ±Û·çŸƼ¿ÂÇÕ¼ºÈ¿¼Ò
  • synthetase
    ÇÕ¼ºÈ¿¼Ò
  • acquired immune deficiency syndrome
    ÈÄõ¸é¿ª°áÇÌÁõÈıº, ¿¡ÀÌÁî
  • biotin deficiency syndrome
    ºñ¿Àƾ°áÇÌÁõÈıº
  • deficiency
    1. °áÇÌ 2. °áÇÌÁõ
  • deficiency disease
    °áÇ̺´
  • erythropoietin deficiency anemia
    ¿¡¸®Æ®·ÎÆ÷ÀÌ¿¡Æ¾°áÇ̺óÇ÷
  • fat deficiency disease
    Áö¹æ°áÇ̺´
  • folate deficiency anemia
    ¿±»ê°áÇ̺óÇ÷
  • iron deficiency anemia
    ö°áÇ̺óÇ÷
  • immune deficiency
    ¸é¿ª°áÇÌ
  • leukocyte adhesion deficiency
    ¹éÇ÷±¸ºÎÂø°áÇÌ
  • nutritional deficiency disease
    ¿µ¾ç°áÇ̺´
  • nutritional deficiency state
    ¿µ¾ç°áÇÌ»óÅÂ
  • nutritional deficiency syndrome
    ¿µ¾ç°áÇÌÁõÈıº
´ëÇÑÀÇÇù Çʼö ÀÇÇпë¾îÁý »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 3 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • synthetase
    ÇÕ¼ºÈ¿¼Ò
  • iron deficiency anemia
    ö°áÇ̺óÇ÷
  • deficiency
    °áÇÌ(Áõ)
¿¾ ´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • synthetase
    ÇÕ¼ºÈ¿¼Ò
  • acid lipase deficiency
    »ê¼ºÁöÁúºÐÇØÈ¿¼Ò°áÇÌ
  • acquired immune deficiency
    ÈÄõ¸é¿ª°áÇÌ
  • acquired immune deficiency syndrome
    ÈÄõ¸é¿ª°áÇÌÁõÈıº, ¿¡ÀÌÁî
  • adhesion deficiency disorder
    À¯Âø°áÇÌÀå¾Ö
  • antibody deficiency syndrome
    Ç×ü°áÇÌÁõÈıº
  • erythropoietin deficiency anemia
    ¿¡¸®Æ®·ÎÆ÷¿¡Æ¾°áÇ̺óÇ÷
  • folate deficiency anemia
    ¿±»ê°áÇÌ
  • iron deficiency anemia
    ö°áÇ̺óÇ÷
  • ceruloplasmin deficiency
    ¼¼·ê·ÎÇö󽺹ΰáÇÌ
  • complement deficiency
    µµ¿òü°áÇÌ
  • deficiency
    °áÇÌ(Áõ)
  • deficiency disease
    ¿µ¾ç°áÇ̺´
  • fat deficiency disease
    Áö¹æ°áÇÌÁõ
  • functional deficiency
    ±â´É°áÇÌ
¿¾ ´ëÇÑÀÇÇù 2 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • antibody to histidyl tRNa synthetase
    È÷½ºÆ¼µô tRNa ÇÕ¼ºÈ¿¼Ò¿¡ ´ëÇÑ Ç×ü
  • gamma-glutamyl cysteine synthetase
    °¨¸¶-±Û·çŸ¹Ð½Ã½ºÅ×ÀÎÇÕ¼ºÈ¿¼Ò
  • heme synthetase
    ÈûÇÕ¼ºÈ¿¼Ò.
  • heme synthetase
    ÇðÇÕ¼ºÈ¿¼Ò.
  • phosphoribosyl pyrophosphate synthetase
    Æ÷½ºÆ÷¸®º¸½ÇÇÇ·ÎÆ÷½ºÆäÀÌÆ®½ÅÅןÁ¦<ÇÕ¼ºÈ¿¼Ò>
  • Acquiered immune deficiency syndrome
    ÈÄõ¼º ¸é¿ª °áÇÌÁõÈıº
  • Fluorine deficiency
    ºÒ¼Ò°áÇÌÁõ(Ý×áÈÌÀù¹ñø)
  • Folate deficiency
    ¿±»ê°áÇÌÁõ(ç¨ß«ÌÀù¹ñø)
  • Iodine deficiency
    ¿äµå °áÇÌÁõ(ÌÀù¹ñø)
  • Iron deficiency anemia
    ö°áÇ̼ººóÇ÷(ôÑÌÀù¹àõÞ¸úì)
  • Rh deficiency syndrome
    Rh °áÇÌÁõÈıº
  • T cell deficiency
    T¼¼Æ÷°áÇÌ
  • abdominal muscle deficiency syndrome
    º¹±Ù°á¼ÕÁõÈıº(ÜÙÐÉÌÀáßñøý¦ÏØ).
  • acid lipase deficiency
    »ê¼º ¸®ÆÄÁ¦ °áÇÌÁõ(ß«àõ¡­ÌÀù¹ñø)
  • acquired immune deficiency
    ÈÄõ¼º ¸é¿ª°áÇÌ
¿¾ ´ëÇÑÀÇÇù 3 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • antibody to histidyl tRNa synthetase
    È÷½ºÆ¼µô tRNa ÇÕ¼ºÈ¿¼Ò¿¡ ´ëÇÑ Ç×ü
  • cystathionine synthetase
    ½Ã½ºÅ¸Æ¼¿À´ÑÇÕ¼ºÈ¿¼Ò(¡­ùêà÷ý£áÈ).
  • delta-aminolevulinic acid synthetase
    µ¨Å¸-¾Æ¹Ì³ë·¹ºÒ¸°»êÇÕ¼ºÈ¿¼Ò
  • gamma-glutamyl cysteine synthetase
    °¨¸¶-±Û·çŸ¹Ð½Ã½ºÅ×ÀÎÇÕ¼ºÈ¿¼Ò
  • glutathione synthetase
    ±Û·çŸƼ¿ÂÇÕ¼ºÈ¿¼Ò
  • heme synthetase
    ÇðÇÕ¼ºÈ¿¼Ò.
  • heme synthetase
    ÈûÇÕ¼ºÈ¿¼Ò.
  • histydyl-t-rna synthetase
    Histydyl-t-RNA ÇÕ¼ºÈ¿¼Ò
  • phosphoribosyl pyrophosphate synthetase
    Æ÷½ºÆ÷¸®º¸½ÇÇÇ·ÎÆ÷½ºÆäÀÌÆ®½ÅÅןÁ¦<ÇÕ¼ºÈ¿¼Ò>
  • thromboxane synthetase
    Æ®·Òº¹¼¼ÀÎÇÕ¼ºÈ¿¼Ò
  • abdominal muscle deficiency syndrome
    º¹±Ù°á¼ÕÁõÈıº(ÜÙÐÉÌÀáßñøý¦ÏØ).
  • acid lipase deficiency
    »ê¼º ¸®ÆÄÁ¦ °áÇÌÁõ(ß«àõ¡­ÌÀù¹ñø)
  • acquired immune deficiency
    ÈÄõ¼º ¸é¿ª°áÇÌ
  • acquired immune deficiency syndrome
    ÈÄõ¼º ¸é¿ª°áÇÌ ÁõÈıº
  • acquired immune deficiency syndrome
    ÈÄõ¼º ¸é¿ª°áÇÌÁõÈıº(ý­ô¸àõ Øóæ¹ÌÀù¹ñøý¦ÏØ)
´ëÇÑÇØºÎÇÐȸ ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • Deficiency (Nanismus)
    °áÇÌ(³­ÀåÀÌÁõ)
    [¿¾ ¿ë¾î] °áÇÌ
  • Organogenetic deficiency
    ±â°ü¹ß»ý°áÇÌ
    [¿¾ ¿ë¾î] ±â°ü¹ß»ý°áÇÌ
  • Functional deficiency
    ±â´É°áÇÌ
    [¿¾ ¿ë¾î] ±â´ÉÀû°áÇÌ
  • Pituitary hormone deficiency (Pituitary dwarfism)
    ³úÇϼöüȣ¸£¸ó°áÇÌ (³úÇϼöü³­ÀåÀÌ)
    [¿¾ ¿ë¾î] ³úÇϼöüȣ¸£¸ó°áÇÌ (³úÇϼöü³­ÀåÀÌ)
  • Reaction deficiency
    ¹ÝÀÀ°áÇÌ
    [¿¾ ¿ë¾î] ¹ÝÀÀ°áÇÌ
  • Vitamin deficiency (Fetal osteodystrophy)
    ºñŸ¹Î°áÇÌ(žƻÀ¿µ¾çÀå¾Ö)
    [¿¾ ¿ë¾î] ºñŸ¹Î°áÇÌ(žƻÀ¿µ¾çÀå¾Ö)
  • Cellular deficiency (Acallosal cerebrum)
    ¼¼Æ÷°áÇÌ (³úµéº¸°á¿©³ú)
    [¿¾ ¿ë¾î] ¼¼Æ÷°áÇÌ
  • Intracellular deficiency (Albinism)
    ¼¼Æ÷¼Ó°áÇÌ (¹é»öÁõ)
    [¿¾ ¿ë¾î] ¼¼Æ÷³»°áÇÌ
  • Chromosomal deficiency
    ¿°»öü°áÇÌ
    [¿¾ ¿ë¾î] ¿°»öü°á½Ç
  • Stimulation deficiency
    ÀڱذáÇÌ
    [¿¾ ¿ë¾î] ÀڱذáÇÌ
  • Sensory deficiency
    °¨°¢°áÇÌ
    [¿¾ ¿ë¾î] °¨°¢°áÇÌ
  • Thyroid hormone deficiency (Cretinism)
    °©»ó»ùÈ£¸£¸ó°áÇÌ (°©»ó»ù³­ÀåÀÌ)
    [¿¾ ¿ë¾î] °©»ó¼±È£¸£¸ó°áÇÌ (°©»ó»ù³­ÀåÀÌ)
  • Deficiency
    °áÇÌ
    [¿¾ ¿ë¾î] °áÇÌ
  • Deficiency (Monstrous tumor)
    °áÇÌ (±«¹°Á¾)
    [¿¾ ¿ë¾î] °áÇÌ
  • Secretion deficiency
    ºÐºñ°áÇÌ
    [¿¾ ¿ë¾î] ºÐºñ°áÇÌ
´ëÇÑ»ýÈ­ÇкÐÀÚ»ý¹°ÇÐȸ ¿ë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • dihydrobiopterin
    ÀÌ(ì£)¼ö¼Ò(â©áÈ)¹ÙÀÌ¿ÀÅ׸° = biopterin
  • aminoacyl-tRNA synthetase
    ¾Æ¹Ì³ë¾Æ½ÇtRNA ½ÅÅ×Å×À̽º
  • amylose synthetase(synthase)
    "¾Æ¹Ð·Î½º½ÅÅ×Å×À̽º, ¾Æ¹Ð·Î½º½ÅÅ×À̽º"
  • conditioned vitamin deficiency
    Á¶°ÇºÎ(ðÉËìݾ) ºñŸ¹Î°áÇË(ÌÀù¹)
  • deficiency
    °áÇÌ(ÌÀù¹)
  • deficiency disease
    °áÇÌ Áúȯ(ÌÀù¹òðü´)
  • deficiency mutant
    "°áÇÌ º¯ÀÌü(ÌÀù¹Ü¨ì¶ô÷), (ÔÒ) auxotroph"
  • dietary deficiency
    ½ÄÀ̰áÇÌ(ç½å×ÌÀù¹)
  • familial high-density lipoprotein deficiency °¡Á·¼º °í¹Ðµµ ÁöÁú´Ü¹éÁú °áÇÌ (Ê«ðéàõÍÔÚËÓøò·òõ
    Ó±ÛÜòõÌÀù¹)
  • familial lysosomal lipase deficiency
    °¡Á·¼º(Ê«ðéàõ) ¶óÀÌ¼Ò¼Ø ¶óÀÌÆäÀ̽º °áÇÌ(ÌÀù¹)
  • fatty acid synthetase system
    Áö¹æ»ê ÇÕ¼º È¿¼Ò(ò·Û¸ß«ùêà÷ý£áÈ)½Ã½ºÅÛ
  • glucose-6-phosphate dehydrogenase deficiency
    ±Û·çÄÚ½º-6-Àλê(×òß«) µðÇÏÀ̵å·ÎÀú³×À̽º °áÇÌ(ÌÀ
  • heme synthetase
    Èû½ÅÅ×Å×À̽º
  • lactose synthetase
    ¶ôÅ佺 ½ÅÅ×Å×À̽º
  • peptide synthetase
    ÆéŸÀÌµå ½ÅÅ×Å×À̽º
KI ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 6 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
  • deficiency
    °áÇÌÁõ
  • deficiency anemia
    °áÇ̼ººóÇ÷
  • iron deficiency anemia
    ö°áÇ̼ººóÇ÷
  • mineral deficiency
    ¹«±âÁú°áÇÌ(Áõ)
  • nutritional deficiency disease
    ¿µ¾ç°áÇÌÁõ
  • vitamin deficiency
    ºñŸ¹Î°áÇÌ(Áõ)
KMLE ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 1
DHBS dihydrobiopterin synthetase
MD Doctor of Medicine [Lat. Medicinae Doctor]; magnesium deficiency; main duct; maintenance dose; major...
GSD genetically significant dose; Gerstmann-Straussler disease; glutathione synthetase deficiency; glyco...
IGD idiopathic growth hormone deficiency; interglobal distance; isolated gonadotropin deficiency
MCD magnetic circular dichroism; mast-cell degranulation; mean cell diameter; mean of consecutive differ...
KMLE ÀÚµ¿ÃßÃâ ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 1
2-5A synthetase 2', 5'-oligoadenylate synthetase
ATD 1-antitrypsin deficiency
AMD Acid maltase deficiency
AIDS Acquire Immune Deficiency Syndrome
AIDS Acquired Immune Deficiency Disease Syndrome
°æºÏ´ë Ä¡°ú´ëÇÐ ±¸°­³»°ú ±³½Ç »çÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
  • ¿µ¹®
    ÇѱÛ
    ¼³¸í
  • synthetase
    ½ÅÅ×Å×À̽º, ½ÅÅןÁ¦, ÇÕ¼º È¿¼Ò
    ATP ȤÀº ±×¿Í À¯»çÇÑ »ïÀλ꿰¿¡¼­
  • 17-hydroxylase deficiency
    17-hydroxylase °áÇÌ
  • acquired immune deficiency syndrome
    ÈÄõ¼º ¸é¿ª °áÇÌ ÁõÈıº
    1. ÇöÀúÇÑ ¸é¿ª °áÇ̰ú ÇÔ²² ±âȸ°¨¿°, ¼Ó¹ß¼º ¾Ï ¹× ½Å°æ°è Áõ¼¼°¡ µ¿¹Ý. ¹ÙÀÌ·¯½º ÀÚü¿¡ ÀÇÇÑ º´º¯°ú ¸é¿ª´É·Â ÀúÇÏ¿¡ µû¸¥ ±âȸ °¨¿° µîÀÇ ÀÌÂ÷Àû º´º¯ÀÇ µÎ °¡Áö·Î ´ëº°. HIV¿¡ ÀÇÇØ ¹ß»ýµÇ´Â ÁúȯÀ¸·Î ½Å°æ°è°¡ Áß¿ä Ç¥ÀûÁß Çϳª. ¹ÙÀÌ·¯½º¿¡ °¨¿°µÈ »ç¶÷ÀÇ 40% Á¤µµ°¡ Áúº´ÀÌ ¹ß»ý. ¹ÙÀÌ·¯½ºÀÇ Á÷Á¢ÀûÀÎ ¿µÇâ¿¡ ÀÌÇÑ º´º¯À¸·Î´Â ¸²ÇÁ±¸¼º ¼ö¸·¿°°ú HIV ³ú¿° µîÀÌ ÀÖÀ½. 2. ÈÄõ¼º ¸é¿ª°áÇÌÁõ. Àΰ£ ¸é¿ª°áÇÌ ¹ÙÀÌ·¯½º
  • acquired immune deficiency syndrome
    ÈÄõ¼º ¸é¿ª°áÇÌ ÁõÈıº
  • adenosine deficiency
    ¾Æµ¥³ë½Å °áÇÌÁõ
  • ascorbic acid deficiency
    ¾Æ½ºÄÚ¸£ºó»ê °áÇÌÁõ
    Ư¡ÀûÀÎ ±«Ç÷º´ÀÌ ³ªÅ¸³ª¸ç ÀÌÀÇ Áõ»óÀ¸·Î´Â ÀÕ¸öÀÌ º×°í ½±°Ô ÃâÇ÷ÀÌ µÇ°í, Ä¡¾Æ Çü¼º Àå¾Ö Ä¡Á¶°ñ Èí¼ö ÇÇÇÏ ÃâÇ÷ µîÀÌ ÀÖÀ¸¸ç â»ó Ä¡À¯°¡ ´Ê¾îÁø´Ù.
  • cell adhesion molecular deficiency
    ¼¼Æ÷ À¯Âø ºÐÀÚ °áÇÌ
  • cellular deficiency
    ¼¼Æ÷ °áÇÌ
    ¼¼Æ÷°¡ À¯ÀüÀû ȤÀº ÀÚ°¡¸é¿ªÀû ¿äÀÎÀ¸·Î ÀÎÇØ¼­ °áÇÌµÈ °Í.
  • chromosomal deficiency
    ¿°»öü °áÇÌ
  • color deficiency
    »ö °áÇÌ
  • deficiency anemia
    °áÇ̼º ºóÇ÷
    Ç÷»ö¼Ò °áÇÌÀ¸·Î ÀÎÇÑ ºóÇ÷.
  • deficiency symptom
    °áÇÌ Áõ»ó
    ³»ºÐºñ¼±ÀÇ ºÐºñ Àå¾Ö¿¡ ÀÇÇÑ Áõ»ó.
  • diphosphatase deficiency
    µðÆ÷½ºÆÄŸÁ¦ °áÇÌ
  • electrolyte deficiency syndrome
    ÀüÇØÁú °áÇÌ ÁõÈıº
  • erythropoietin deficiency anemia
    ¿¡¸®Æ®·ÎÆ÷¿¡Æ¾ °áÇ̼º ºóÇ÷, ÀûÇ÷±¸ Á¶Ç÷ ÀÎÀÚ °áÇ̼º ºóÇ÷
CancerWEB ¿µ¿µ ÀÇÇлçÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 1
erythro-dihydrobiopterin triphosphate synthetase <enzyme> Converts 2-amino-6(5'-triphosphoribosyl)-amino-5-or -6-formamido-6-hydroxypyrimidine into quinonoid-d-erythrodihydroneopterin triphosphate
Registry number: EC 3.5.4.-
Synonym: dhbp-tp-synthetase
(26 Jun 1999)
7,8-dihydrobiopterin synthetase <enzyme> Converts erythro-7,8-dihydro neopterin triphosphate to sepiapterin
Registry number: EC 1.1.-
Synonym: l-erythro-7,8-dihydrobiopterin synthetase, dihydrobiopterin synthetase
(26 Jun 1999)
dihydrobiopterin Precursor to tetrahydrobiopter, a required cofactor for a number of enzymes, including the biosynthesis of l-tyrosine; the inability to synthesise dihydrobiopterin can result in a form of malignant hyperphenylalaninaemia.
(05 Mar 2000)
dihydrobiopterin reductase <enzyme> An enzyme that catalyses the reduction of 6,7-dihydropteridine to 5,6,7,8-tetrahydropteridine.
Chemical name: NAD(P)H:6,7-dihydropteridine oxidoreductase
Registry number: EC 1.6.99.7
(12 Dec 1998)
carbamoylphosphate synthetase deficiency <biochemistry> Carbamoylphosphate synthetase is the initial enzyme of the urea cycle, catalysing the synthesis of carbamoylphosphate from ammonia, bicarbonate and ATP as the first step of ammonia detoxification.
The enzyme is an intramitochondrial form called CPS I. A different isozyme found in the cytoplasm, called CPS II, is much less active and apparently not involved in the urea cycle. The deficiency state is autosomal recessive and presents in infancy with massive hyperammonaemia and neurologic deficits in survivors.
Diagnosis is suggested by the blood biochemistry and confirmed by specific enzyme assay on liver or rectal biopsy. Prenatal diagnosis by molecular methods has been used successfully in informative families.
Inheritance: autosomal recessive.
(07 Apr 1998)
glutathione synthetase deficiency An inborn error of metabolism associated with massive urinary excretion of 5-oxyproline, elevated levels of 5-oxyproline in the blood and cerebrospinal fluid, severe metabolic acidosis, tendency toward haemolysis, and defective central nervous systems function. Glutathione synthetase deficiency has been reported as a generalised condition or with a deficiency restricted to erythrocytes.
(05 Mar 2000)
abdominal muscle deficiency syndrome <syndrome> Congenital absence (partial or complete) of abdominal muscles, in which the outline of the intestines is visible through the protruding abdominal wall; in males, genitourinary anomalies (urinary tract dilation and cryptorchidism) are also found; genetics unclear.
(05 Mar 2000)
adult lactase deficiency Onset of lactase deficiency, with resulting milk intolerance and malabsorption, in adulthood. Inherited forms may not be manifested until adulthood; any process that damages the intestinal lining cells can cause lactase deficiency in adults.
(05 Mar 2000)
alpha-1 antitrypsin deficiency <chest medicine> Deficiency of the protease inhibitor alpha-1 antitrypsin, leads primarily to degradation of elastin of the alveolar walls, as well as other structural proteins of a variety of tissues.
The lack of this protein leads to damage of various organs, but mainly to the lung and liver.
symptoms may become apparent at a very early age or in adulthood, manifesting either as shortness of breath or liver related symptoms (jaundice, fatigue, fluid in the abdomen, mental changes, or gastrointestinal bleeding). There are several options for treatment of the lung disease, including replacement of the missing protein. Treatment of the liver disease is a well-timed liver transplant
(12 Dec 1998)
alpha-1-proteinase deficiency Absence of a serum proteinase inhibitor that may cause nodular non-suppurative panniculitis.
(05 Mar 2000)
alpha-antitrypsin deficiency <enzyme> A specific enzyme (alpha 1 antitrypsinase) that when absent genetically can result in panacinar emphysema (lung disease) and liver disease.
There is no specific treatment for this condition other than supportive care for the liver and lung complications.
Medications such as alpha-1proteinase inhibitor is given regularly to these patients.
Incidence: approximately 1 in 10,000.
(02 Jan 1998)
anaemia, iron deficiency Deficiency of iron results in anaemia because iron is necessary to make haemoglobin, the key molecule in red blood cells responsible for the transport of oxygen. In iron deficiency anaemia, the red cells are unusally small (microcytic) and pale (hypochromic). Characteristic features of iron deficiency anaemia in children include failure to thrive (grow) and increased infections. The treatment of iron deficiency anaemia, whether it be in children or adults, is with iron and iron-containing foods. Food sources of iron include meat, poultry, eggs, vegetables and cereals (especially those fortified with iron). According to the National Academy of Sciences, the Recommended Dietary Allowances of iron are 15 milligrams per day for women and 10 milligrams per day for men.
Anaemia characterised by low or absent iron stores, low serum iron concentration, elevated free erythrocyte porphorin, low transferrin saturation, elevated transferrin, low serum ferritin, low haemoglobin concentration or haematocrit, and hypochromic microcytic red blood cells. Symptoms may include pallor, angular stomatitis and other oral lesions, gastrointestinal complaints, retinal haemorrhages and exudates, and thinning and brittleness of the nails. Among the causes of iron-deficiency anaemia are inadequate iron intake, impaired iron absorption, increased blood loss and increased requirements such as infancy, pregnancy, and lactation.
(12 Dec 1998)
antibody deficiency disease <syndrome> Any of a group of disorders associated with a defective antibody production due to defects in the B-type lymphocyte system or in T-type lymphocytes; chief manifestation is an increased susceptibility to infection by various microorganisms.
See: agammaglobulinaemia, hypogammaglobulinaemia, immunodeficiency.
Synonym: antibody deficiency disease.
(05 Mar 2000)
antibody deficiency syndrome <syndrome> Any of a group of disorders associated with a defective antibody production due to defects in the B-type lymphocyte system or in T-type lymphocytes; chief manifestation is an increased susceptibility to infection by various microorganisms.
See: agammaglobulinaemia, hypogammaglobulinaemia, immunodeficiency.
Synonym: antibody deficiency disease.
(05 Mar 2000)
antitrypsin deficiency Deficiency of a1-antitrypsin, a glycoprotein of the postalbumin region of human serum. Many forms are known which may be moderate (40 to 60% of normal activity) or severe (less than 10% of normal), all autosomal dominant; the severe form is often associated with familial emphysema or hepatic cirrhosis.
(05 Mar 2000)
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dihydrobiopterin synthetase deficiency older name for malignant hyperphenylalaninemia due to a defect in the biosynthesis of tetrahydrobiopterin.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
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