- °ü·ÃÁúȯ¸í : ºñ¿ÀƼ´Ï´ÙÁ¦ °áÇÌÁõ(Biotindase Defficiency)
ºñ¿ÀƾÀÇÁ¸¼º Ä«¸£º¹½Ã¶óÁ¦ °áÇÌÁõ(Biotin-depadent Carboxylase Defficiency)
º¹ÇÕ Ä«¸£º¹½Ã¶óÁ¦ °áÇÌÁõ ¶Ç´Â º¹ÇÕÄ«¸£º¹½ÃÈ¿¼Ò °áÇÌÁõ(Carboxylase Defficiency, Multiple)
Ȧ·ÎÄ«¸£º¹½Ã¶óÁ¦ ÇÕ¼ºÈ¿¼Ò ºÎÁ·Áõ(Holocarboxylase Syntherase Deficiency)
- ¿µÇâºÎÀ§ : ü³» : ³ú, Ç÷°ü(Ç÷¾×) / ü¿Ü : ±ÙÀ°, ÇǺÎ
- Áõ»ó : ÇǺιßÁø, Å»¸ð, ±âȸ°¨¿°, È£Èí°ï¶õ, ÁÖÀ¯ °ï¶õ, ±¸Åä, ¹ßÀ°ºÎÁø, ¹ß´ÞÁö¿¬
- ¿øÀÎ : »ó¿°»öü ¿Á¤À¸·Î À¯Àü
- Áø´Ü : Ç÷¾×°Ë»ç, ¼Òº¯°Ë»ç, û·Â°Ë»ç, ½Ã·Â°Ë»ç, ³úÆÄ
- Ä¡·á : ºñ¿Àƾ º¸Ãæ ´ëÁõ¿ä¹ý(symptomatic treatment), ÁöÁö¿ä¹ý(supportive Therapy), À¯Àü»ó´ã
- »êÁ¤Æ¯·ÊÄÚµå :
- ÀÇ·áºñÁö¿ø : ¹ÌÁö¿ø
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º¹ÇÕÄ«¸£º¹½ÃÈ¿¼Ò °áÇÌÁõ(Multiple carboxylase deficiency)Àº ºñŸ¹Î B±ºÀÎ ºñ¿ÀƾÀ» ÇÊ¿ä·Î ÇÏ´Â Ä«¸£º¹½Ã¶óÁ¦¶ó´Â È¿¼ÒÀÇ È°µ¿¿¡ Àå¾Ö°¡ »ý±ä ¸Å¿ì µå¹® À¯Àü¼º ´ë»çÁúȯÀÔ´Ï´Ù.
Ä«¸£º¹½Ã¶óÁ¦´Â Áö¹æ»ê ÇÕ¼º°ú ¾Æ¹Ì³ë»ê ´ë»ç, Æ÷µµ´ç ÇÕ¼º¿¡ Æø³Ð°Ô °ü¿©Çϴµ¥, ´ÙÀ½ ³×°¡Áö Á¾·ù°¡ ÀÖ½À´Ï´Ù.
- ÇÁ·ÎÇÇ¿À´Ò ÄÚ¿£ÀÚÀÓ A Ä«¸£º¹½Ã¶óÁ¦ (Propionyl CoA carboxylase)
- º£Å¸¸ÞÆ¿Å©·ÎÅä´Ò ÄÚ¿£ÀÚÀÓ A Ä«¸£º¹½Ã¶óÁ¦ (Beta-methylcrotonyl CoA carboxylase)
- ÇǷ纣ÀÌÆ® Ä«¸£º¹½Ã¶óÁ¦ (Pyruvate carboxylase)
- ¾Æ¼¼Æ¿ ÄÚ¿£ÀÚÀÓ A Ä«¸£º¹½Ã¶óÁ¦ (Acetyl CoA carboxylase)
Á¶±â ¹ßÇöÇü(½Å»ý¾Æ±â~21°³¿ù À̳»¿¡ ¹ßº´ : Ȧ·ÎÄ«¸£º¹½Ã¶óÁ¦ ÇÕ¼ºÈ¿¼Ò ºÎÁ·Áõ(Holocarboxylase Synthetase Deficiency)), ¼Ò¾ÆÇü(»ýÈÄ 3°³¿ù~¼ö³â ÈÄ¿¡ ¹ßº´ : ºñ¿ÀƼ´Ï´ÙÁ¦ °áÇÌÁõ(Biotindase Deficiency))ÀÌ ÀÖÀ¸¸ç, ³²³à°£¿¡ ¹ßº´·ü Â÷ÀÌ´Â ¾øÀ¸¸ç, ¾à 14¸¸ ¸í´ç ÇÑ ¸í²Ã·Î ¹ß»ýÇÏ°í ÀÖ½À´Ï´Ù.
»ó¿°»öü ¿¼º ÇüÁú·Î À¯ÀüµÇ´Â ÁúȯÀ¸·Î, ¼¼Æ÷ ³»ÀÇ ºñ¿ÀƾÀÇ ¿î¹Ý°ú ´ë»ç¿¡ °áÇÔÀÌ »ý°Ü¼ Ç÷¾×°ú Á¶Á÷ÀÇ »êµµ(pH)°¡ ³·¾ÆÁö´Â ´ë»ç¼º »êÁõÀÌ ³ªÅ¸³ª°í, ÇǺο¡ ºÓÀº »öÀÇ ¹ßÁøÀÌ ³Ð°Ô ÆÛÁö¸ç, Å»¸ð¿Í ¼ºÀå Áö¿¬ÀÌ ³ªÅ¸³³´Ï´Ù.
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Á¶±â ¹ßÇöÇü º¹ÇÕÄ«¸£º¹½ÃÈ¿¼Ò °áÇÌÁõ(Multiple carboxylase deficiency)ÀÇ Áõ»óÀº ´ë°³ Ãâ»ý ÈÄ 1³â À̳»(»ýÈÄ Ã¹Â° ÁÖ ¶Ç´Â ¸î ´Þ ¾È¿¡)¿¡ ³ªÅ¸³ª±â ½ÃÀÛÇÕ´Ï´Ù. ÁÖµÈ Áõ»óÀº È£Èí°ï¶õ, ¼öÀ¯ °ï¶õ, ±¸Åä, ¹ßÀ°ºÎÁø, ¹ß´ÞÁö¿¬ µîÀÔ´Ï´Ù. ¼Ò¾ÆÇüÀº »ýÈÄ ¼ö°³¿ù~¼ö³â ÈÄ¿¡ Áõ»óÀÌ ³ªÅ¸³³´Ï´Ù.
´ë»ç Àå¾ÖÀÇ °á°ú·Î ÀÎÇØ ´ë»ç¼º »êÁõÀÌ »ý±â°Ô µÇ´Âµ¥ ÀÌ·Î ÀÎÇØ ±ÇÅ°¨, ¿ÀÇÑ, ¹ß¿ µîÀÇ Áõ»ó°ú ÇǺο¡ ³Ð°Ô ÆÛÁø ¹ßÁø, ¹Ýº¹µÇ´Â ±¸Åä, ÀÚ±Ø °ú¹Î¼º µîÀÌ ³ªÅ¸³¯ ¼ö ÀÖ½À´Ï´Ù.
¶ÇÇÑ Áö¹æ»ê »ý¼º°ú ¾Æ¹Ì³ë»ê ´ë»ç°¡ Àß µÇÁö ¾Ê¾Æ¼ Å»¸ð, ¹ßÀÛ, ±ÙÀ° ±äÀ强 ÀúÇÏ, ¸é¿ª ü°èÀÇ Àå¾Ö°¡ »ý±æ ¼ö ÀÖÀ¸¸ç ¶ÇÇÑ Á¶È¿îµ¿ºÒ´É, û·Â »ó½Ç, ½ÉÇÑ ±Ù½Ã, È£Èí ºÎÀü µîÀÌ »ý±æ ¼ö ÀÖ½À´Ï´Ù.
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º¹ÇÕÄ«¸£º¹½ÃÈ¿¼Ò °áÇÌÁõ(Multiple carboxylase deficiency)ÀºÇÁ·ÎÇÇ¿À´Ò ÄÚ¿£ÀÚÀÓ A Ä«¸£º¹½Ã¶óÁ¦(Propionyl CoA carboxylase), º£Å¸¸ÞÆ¿Å©·ÎÅä´Ò ÄÚ¿£ÀÚÀÓ A Ä«¸£º¹½Ã¶óÁ¦ (Beta-methylcrotonyl CoA carboxylase), ¾Æ¼¼Æ¿ ÄÚ¿£ÀÚÀÓ A Ä«¸£º¹½Ã¶óÁ¦ (Acetyl CoA carboxylase), ÇǷ纣ÀÌÆ® Ä«¸£º¹½Ã¶óÁ¦(Pyruvate carboxylase)ÀÇ °áÇÌÀÌ ³ªÅ¸³ª´Â »ó¿°»öü ¿¼ºÁúȯÀÔ´Ï´Ù.
ÀÌ·¯ÇÑ °áÇÌÀº ´Ü¹éÁú°ú ¿¬°áµÈ ºñŸ¹Î BÀÎ ºñ¿ÀƾÀ» ¹æÃâÇÏ´Â ºñ¿ÀƼ´Ï´ÙÁ¦(Biotinidase)ÀÇ Àå¾Ö, ³× °¡Áö Á¾·ùÀÇ Ä«¸£º¹½Ã¶óÁ¦(Carboxylase)¸¦ ºñ¿Àƾ°ú À̾îÁÖ´Â µ¥ ÇÊ¿äÇÑ ¿ÏÀüÄ«¸£º¹½Ã¶óÁ¦ ÇÕ¼ºÈ¿¼Ò(Holocarboxylase synthetase)ÀÇ °áÇÔ¿¡ ÀÇÇØ »ý±é´Ï´Ù.
¿øÀÎÀÌ µÇ´Â º¯ÀÌ À¯ÀüÀÚ ¿ÏÀüÄ«¸£º¹½Ã¶óÁ¦ ÇÕ¼ºÈ¿¼Ò (Holocarboxylase synthetase)´Â 21¹ø ¿°»öüÀÇ Àå¿Ï¿¡ À§Ä¡(22q22.1)ÇÏ°í ÀÖÀ¸¸ç, ºñ¿ÀƼ´Ï´ÙÁ¦(Biotinidase)´Â 3¹ø ¿°»öüÀÇ ´Ü¿Ï¿¡ À§Ä¡(3p25)¿¡ À§Ä¡ ÇÏ°í ÀÖ´Ù.
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º¹ÇÕÄ«¸£º¹½ÃÈ¿¼Ò °áÇÌÁõ(Multiple carboxylase deficiency)Àº ƯÁ¤ È¿¼Ò °áÇÌ¿¡ ÀÇÇØ Æ¯Â¡ÀûÀÎ Áõ»óÀÌ ³ªÅ¸³ª´Â ÁúȯÀ̹ǷΠȯÀÚÀÇ Áõ»ó¿¡ ±âÃÊÇؼ °Ë»ç¸¦ ÁøÇàÇÏ°Ô µË´Ï´Ù.
´ë»ç Àå¾Ö¿¡ ÀÇÇÑ »êÁõÀÌ ³ªÅ¸³ª¹Ç·Î Ç÷¾×°ú ¼Òº¯°Ë»ç¸¦ ÅëÇØ »êÁõÀÇ Á¤µµ¸¦ È®ÀÎÇÒ ¼ö ÀÖÀ¸¸ç ÄÉÅæÁõ, °í¾Ï¸ð´Ï¾ÆÇ÷Áõ ¹× À¯±â»êÇ÷Áõµµ È®ÀÎÇÒ ¼ö ÀÖ½À´Ï´Ù.
û·Â°ú ½Ã·Â¿¡ ÀÌ»óÀÌ ³ªÅ¸³ª¹Ç·Î û·Â°ú ½Ã·Â¿¡ ´ëÇÑ Æò°¡¸¦ À§ÇØ Á¤¹ÐÇÑ Ã»°¢ °Ë»ç, ¾ÈÀú °Ë»ç, ½Ã¾ß °Ë»ç°¡ ÇÊ¿äÇÕ´Ï´Ù.
°æ·ÃÀÌ ÀÖ´Â °æ¿ì ÀÌ¿¡ ´ëÇÑ Áø´Ü°ú Ä¡·á ¹ÝÀÀÀ» Æò°¡Çϱâ À§ÇØ ³úÆĸ¦ È®ÀÎÇغ¸¾Æ¾ß ÇÑ´Ù. ³úÆİ˻縦 ÅëÇØ ´Ù¾çÇÑ °æ·ÃÀÇ ¾ç»óÀ» È®ÀÎÇÒ ¼ö ÀÖÀ¸¸ç, Ä¡·á¿¡ ¹ÝÀÀÇÏ¿© Á¤»óÀ¸·Î µ¹¾Æ¿Ô´ÂÁö¸¦ Æò°¡ÇÒ ¼ö ÀÖ½À´Ï´Ù.
°¡Á··ÂÀÌ ÀÖ´Ù¸é »êÀü°Ë»ç¸¦ ÅëÇؼ Áø´ÜÀ» ³»¸± ¼ö ÀÖ½À´Ï´Ù.
¶ÇÇÑ Ç÷¾× °Ë»ç¸¦ ÅëÇØ ÀÌ Áúȯ¿¡¼ ºÎÁ·ÇÑ È¿¼ÒµéÀÎ ¾Æ¼¼Æ¿ ÄÚ¿£ÀÚÀÓ A Ä«¸£º¹½Ã¶óÁ¦ (Acetyl CoA carboxylase), ÇÁ·ÎÇÇ¿À´Ò ÄÚ¿£ÀÚÀÓ A Ä«¸£º¹½Ã¶óÁ¦(Propionyl CoA carboxylase)¿Í º£Å¸¸ÞÆ¿Å©·ÎÅä´Ò ÄÚ¿£ÀÚÀÓ A Ä«¸£º¹½Ã¶óÁ¦ (Beta-methylcrotonyl CoA carboxylase), ÇǷ纣ÀÌÆ® Ä«¸£º¹½Ã¶óÁ¦(Pyruvate carboxylase)ÀÇ °áÇÌµÈ Á¤µµ¸¦ ¾Ë ¼ö ÀÖ½À´Ï´Ù.
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±Þ¼º»êÁõÀÌ ÀÖ´Â °æ¿ì´Â Á¤¸Æ ÁÖ»ç·Î Æ÷µµ´ç°ú ¾ËÄ®¸®¸¦ Åõ¿©ÇÏ¿© »êÁõÀ» ±³Á¤ÇØ¾ß ÇÕ´Ï´Ù. ÀÏ´Ü »êÁõÀÌ Áö¼ÓµÇ¸é º¹±¸ÇÒ ¼ö ¾ø´Â ½É°¢ÇÑ ÇÕº´ÁõÀ» ³²±æ ¼ö ÀÖÀ¸¹Ç·Î Áø´ÜÀÌ ³»·ÁÁöÀÚ¸¶ÀÚ ½Å¼ÓÇÏ°Ô Ä¡·á¸¦ ½ÃÀÛÇÏ´Â °ÍÀÌ ¸Å¿ì Áß¿äÇÕ´Ï´Ù.
¾Æµ¿±â¿¡ ÇÏ·ç¿¡ 5-20mgÀÇ ºñ¿ÀƾÀ» ¼·ÃëÇϱ⠽ÃÀÛÇϸé Áõ»óÀÌ È£ÀüµÉ ¼ö ÀÖ½À´Ï´Ù. ±×·¯³ª °í¿ë·®ÀÇ ºñ¿ÀƾÀ» Åõ¿©ÇÏ¿©µµ È£ÀüµÇÁö ¾Ê´Â °æ¿ìµµ ÀÖÀ¸¸ç, û·ÂÀÇ ¼Ò½ÇÀ̳ª, ½Ã½Å°æÀÇ À§Ãà, Áߵ ÀÌ»óÀÇ ¹ß´ÞÀå¾Ö°¡ ³ªÅ¸³ª¸é Ä¡·á¸¦ ½ÃÀÛÇصµ ȸº¹µÇÁö ¾Ê´Â °æ¿ì°¡ ¸¹½À´Ï´Ù.
°¡Á·°ú ȯÀÚ¸¦ À§ÇØ À¯Àü»ó´ãÀ» ÇÏ´Â °ÍÀÌ µµ¿òÀÌ µÇ¸ç, Ãß°¡ÀûÀÎ Ä¡·á·Î´Â Áõ»óÀÇ ¿Ïȸ¦ ¸ñÇ¥·Î ÇÏ´Â ´ëÁõ¿ä¹ý°ú °¢Á¾ ºÎÀÛ¿ë°ú ÇÕº´ÁõÀ» Á¶ÀýÇÏ°í ¿ÏȽÃÅ°±â À§ÇØ ÁöÁö¿ä¹ýÀ» ½ÃµµÇÒ ¼ö ÀÖ½À´Ï´Ù.
[Âü°í¹®Çå ¹× »çÀÌÆ®]
Wolf B. Clinical issues and frequent questions about biotinidase deficiency. Mol Genet Metab. 2010 May;100(1):6-13. Epub 2010 Jan 11.
http://www.rarediseases.org
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253260
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=biotin