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- Àå±â°£ÀÇ ½ÄÀÌ Ä¡·á : Àå±â°£ÀÇ Ä¡·á¿¡¼ Áß¿äÇÑ °ÍÀº Áö¹æ»êÀ» ¿¬·á·Î »ç¿ëÇØ¾ß ÇÒ ¼ö ¹Û¿¡ ¾ø´Â »óȲÀ» ÇÇÇÏ´Â °Í, Áï ±Ý½ÄÀ» ÇÏÁö ¾Ê´Â °ÍÀÌ ÇʼöÀûÀÔ´Ï´Ù. Ãëħ ÈÄ¿¡µµ 12 ½Ã°£ÀÌ»ó ÀÇ ±Ý½ÄÀÌ µÇÁö ¾Êµµ·Ï ȯÀÚ´Â Ãëħ ½Ã ź¼öȹ°À» ¼·ÃëÇÏ¿©¾ß ÇÕ´Ï´Ù. ½Ä¿åÀÌ °¨¼ÒÇÏ¿´À» ¶§´Â ƯÈ÷ ¹ã»õ ź¼öȹ°À» Á¶±Ý¾¿ ´õ ¼·ÃëÇϵµ·Ï ÁÖÀǸ¦ ±â¿ï¿©¾ß¸¸ ÇÕ´Ï´Ù. ±â·ÂÀÌ ¾àȵǾú°Å³ª ½É±Ùº´º¯ÀÌ ÁøÇàµÇ¾î ½ÉÇÑ Áõ¼¼¸¦ º¸ÀÌ´Â Áö¹æ»ê ´ë»çÀÌ»óÁúȯ ȯÀÚµéÀÇ °æ¿ì, °è¼ÓÇÏ¿© ¹ã¿¡µµ À§Àå ³»¿¡ À½½Ä¹°À» Áö¼ÓÀûÀ¸·Î ÁÖÀÔÇÏ¿© ±Ý½ÄÀÇ À¯¹ß¿©Áö¸¦ ¿ÏÀüÈ÷ Á¦°Å ÇÏ¿©¾ß ÇÕ´Ï´Ù. ÀúÁö¹æ, °íź¼öȹ°½ÄÀº »ö¼Ò¼º ¸Á¸·ÁõÀÇ ÁøÇàÀ» ´ÊÃç ÁÁÀº ¿¹Èĸ¦ °¡Á®¿Ã ¼ö ÀÖ½À´Ï´Ù.
- ±× ¹ÛÀÇ Ä¡·á : Áß¼â Áß¼ºÁö¹æ (MCT oil)°ú docosahexanoic acid (DHA) ¼·Ãë°¡ µµ¿òÀÌ µÈ´Ù´Â º¸°í°¡ ÀÖ½À´Ï´Ù. ÀÌ ÁúȯÀº º¸Åë ºÎ¸ð¿¡¼´Â Áõ»óÀÌ ³ªÅ¸³ªÁö ¾ÊÀ¸³ª »ó¿°»öü ¿¼º ¹æ½ÄÀ¸·Î À¯ÀüµÇ´Â ÁúȯÀ̹ǷΠºÎ¸ðÀÇ À¯ÀüÀÚ °Ë»ç¿Í ´õºÒ¾î À¯Àü »ó´ãÀÌ ¿ä±¸µË´Ï´Ù.
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1. Tyni T, Pihko H. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Acta Paediatr 1999;88:237-45.
2. Gillingham M, Van CS, Ney D, Wolff J, Harding C. Management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. A case report and survey. J Inher Metab Dis 22(1999) 123-31.
3. À±Çý¶õ. Áö¹æ»ê »êÈ ÀÌ»ó Áúȯ; Á¾·ù, ÀÓ»ó¾ç»ó ¹× Áø´Ü°ú Ä¡·á. Hanyang medical reviews 2005;25.
4. Laura N. Venditti, Charles P. Venditti, Gerard T. Berry, Paige B. Kaplan, Edward M. Kaye, Henry Glick and Charles A. Stanley. Newborn Screening by Tandem Mass Spectrometry for Medium-Chain Acyl-CoA Dehydrogenase Deficiency : A Cost-Effectiveness Analysis. Pediatrics 2003;112:1005-15.
5. Belliq LL. Maternal acute fatty liver of pregnancy and the associated risk for long-chain 3-hydroxyacyl-coenzyme a dehydrogenase (LCHAD) deficiency in infants. Adv Neonatal Care 2004 Feb;4(1):26-32.
6. Tyni T, Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Pediatr Res. 2004 Nov;56(5):744-50.
7. Ute Spiekerkoetter. Mitochondrial fatty acid oxidation disorders: clinical
presentation of long-chain fatty acid oxidation defects before and after newborn screening J Inherit Metab Dis (2010) 33:527?532
http://www.adamslchad.com
http://www.emedicine.com/ped/topic1284.htm
http://www.savebabies.org/diseasedescriptions/lchadd.php
http://www.lchad.com
http://www.pediatrix.com