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单基因遗传病：新生儿致死型肉碱棕榈酰转移酶Ⅱ缺乏症

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导读	<P>中文名称：新生儿致死型肉碱棕榈酰转移酶Ⅱ缺乏症</P><P>英文名称：Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal </P><P>OMIM号： 608836 </P><P>所属系统：内分泌和代谢系统</P&...

中文名称：新生儿致死型肉碱棕榈酰转移酶Ⅱ缺乏症英文名称：Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal OMIM号： 608836 所属系统：内分泌和代谢系统遗传方式：AR<DIV class=hdwiki_tmml>疾病简介</DIV>脂质沉积性肌病（lipidstoragemyopathy,LSM）的传统概念是指脂肪酸代谢障碍导致脂质在肌纤维内沉积而引起的一种肌肉疾病,目前认为LSM是脂肪酸氧化缺陷症累及骨骼肌的一种病理表现。脂肪酸在线粒体内各种酶的运输或催化下经过一系列的氧化反应（即β氧化）最终变成机体所需的能量,脂肪酸β氧化过程中任何环节出现问题都有可能导致脂肪酸氧化代谢障碍而致病,<DIV class=hdwiki_tmml>相关基因突变信息</DIV><DIV>基因名称：CPT2  参考序列：NM_000098 染色体位置：1p32 </DIV><DIV><TABLE class=table><TBODY><TR><TD> 突变ID</TD><TD> 突变位点</TD><TD> 突变类型</TD><TD>编码区位置 </TD><TD> 野生型</TD><TD>突变型 </TD><TD> 参考文献</TD></TR><TR><TD>1</TD><TD>IVS4+5G-A </TD><TD>S</TD><TD>IVS4 +5 G-A</TD><TD>G</TD><TD>A</TD><TD>[1]</TD></TR><TR><TD>2</TD><TD>IVS3+5G-A </TD><TD>S</TD><TD>IVS3 +5 G-A</TD><TD>G</TD><TD>A</TD><TD>[2]</TD></TR><TR><TD>3</TD><TD>IVS2-1G-A </TD><TD>S</TD><TD>IVS2 -1 G-A</TD><TD>G</TD><TD>A</TD><TD>[3]</TD></TR><TR><TD>4</TD><TD>*35C-T </TD><TD>R</TD><TD>*35 C-T</TD><TD>C</TD><TD>T</TD><TD>[4]</TD></TR><TR><TD>5</TD><TD>*64T-C </TD><TD>R</TD><TD>*64 T-C</TD><TD>T</TD><TD>C</TD><TD>[5]</TD></TR><TR><TD>6</TD><TD>*97G-A </TD><TD>R</TD><TD>*97 G-A</TD><TD>G</TD><TD>A</TD><TD>[6]</TD></TR><TR><TD>7</TD><TD>37delG </TD><TD>D</TD><TD>37</TD><TD>G</TD><TD></TD><TD>[1]</TD></TR><TR><TD>8</TD><TD>43_44ins8 </TD><TD>I</TD><TD>43_44</TD><TD>GC</TD><TD>GGGCCCCG</TD><TD>[1]</TD></TR><TR><TD>9</TD><TD>109_110insGC </TD><TD>I</TD><TD>109_110</TD><TD>CG</TD><TD>GC</TD><TD>[7]</TD></TR><TR><TD>10</TD><TD>P50H </TD><TD>M</TD><TD>149</TD><TD>C</TD><TD>A</TD><TD>[8]</TD></TR><TR><TD>11</TD><TD>C84R </TD><TD>M</TD><TD>250</TD><TD>T</TD><TD>C</TD><TD>[1]</TD></TR><TR><TD>12</TD><TD>256_257delAG </TD><TD>D</TD><TD>256_257</TD><TD>AG</TD><TD></TD><TD>[1]</TD></TR><TR><TD>13</TD><TD>N146T </TD><TD>M</TD><TD>437</TD><TD>A</TD><TD>C</TD><TD>[9]</TD></TR><TR><TD>14</TD><TD>R151Q </TD><TD>M</TD><TD>452</TD><TD>G</TD><TD>A</TD><TD>[10]</TD></TR><TR><TD>15</TD><TD>R161W </TD><TD>M</TD><TD>481</TD><TD>C</TD><TD>T</TD><TD>[9]</TD></TR><TR><TD>16</TD><TD>K164X </TD><TD>M</TD><TD>490</TD><TD>A</TD><TD>T</TD><TD>[9]</TD></TR><TR><TD>17</TD><TD>E174K </TD><TD>M</TD><TD>520</TD><TD>G</TD><TD>A</TD><TD>[11]</TD></TR><TR><TD>18</TD><TD>Y210D </TD><TD>M</TD><TD>628</TD><TD>T</TD><TD>G</TD><TD>[9]</TD></TR><TR><TD>19</TD><TD>D213G </TD><TD>M</TD><TD>638</TD><TD>A</TD><TD>G</TD><TD>[12]</TD></TR><TR><TD>20</TD><TD>M214T </TD><TD>M</TD><TD>641</TD><TD>T</TD><TD>C</TD><TD>[13]</TD></TR><TR><TD>21</TD><TD>P227L </TD><TD>M</TD><TD>680</TD><TD>C</TD><TD>T</TD><TD>[14]</TD></TR><TR><TD>22</TD><TD>R231W </TD><TD>M</TD><TD>691</TD><TD>C</TD><TD>T</TD><TD>[1]</TD></TR><TR><TD>23</TD><TD>K274M </TD><TD>M</TD><TD>821</TD><TD>A</TD><TD>T</TD><TD>[9]</TD></TR><TR><TD>24</TD><TD>R296X </TD><TD>M</TD><TD>886</TD><TD>C</TD><TD>T</TD><TD>[15]</TD></TR><TR><TD>25</TD><TD>R296Q </TD><TD>M</TD><TD>887</TD><TD>G</TD><TD>A</TD><TD>[16]</TD></TR><TR><TD>26</TD><TD>G310G </TD><TD>M</TD><TD>930</TD><TD>C</TD><TD>T</TD><TD>[1]</TD></TR><TR><TD>27</TD><TD>D328G </TD><TD>M</TD><TD>983</TD><TD>A</TD><TD>G</TD><TD>[9]</TD></TR><TR><TD>28</TD><TD>F352C </TD><TD>M</TD><TD>1055</TD><TD>T</TD><TD>G</TD><TD>[1]</TD></TR><TR><TD>29</TD><TD>R382K </TD><TD>M</TD><TD>1145</TD><TD>G</TD><TD>A</TD><TD>[17]</TD></TR><TR><TD>30</TD><TD>F383Y </TD><TD>M</TD><TD>1148</TD><TD>T</TD><TD>A</TD><TD>[18]</TD></TR><TR><TD>31</TD><TD>1223_1224delCT </TD><TD>D</TD><TD>1223_1224</TD><TD>CT</TD><TD></TD><TD>[19]</TD></TR><TR><TD>32</TD><TD>1238_1239delAG </TD><TD>D</TD><TD>1238_1239</TD><TD>AG</TD><TD></TD><TD>[20]</TD></TR><TR><TD>33</TD><TD>1273_1274delAC </TD><TD>D</TD><TD>1273_1274</TD><TD>AC</TD><TD></TD><TD>[1]</TD></TR><TR><TD>34</TD><TD>F448L </TD><TD>M</TD><TD>1342</TD><TD>T</TD><TD>C</TD><TD>[21]</TD></TR><TR><TD>35</TD><TD>E454X </TD><TD>M</TD><TD>1360</TD><TD>G</TD><TD>T</TD><TD>[22]</TD></TR><TR><TD>36</TD><TD>K457X </TD><TD>M</TD><TD>1369</TD><TD>A</TD><TD>T</TD><TD>[1]</TD></TR><TR><TD>37</TD><TD>Y479F </TD><TD>M</TD><TD>1436</TD><TD>A</TD><TD>T</TD><TD>[23]</TD></TR><TR><TD>38</TD><TD>G480R </TD><TD>M</TD><TD>1438</TD><TD>G</TD><TD>A</TD><TD>[1]</TD></TR><TR><TD>39</TD><TD>1444_1447delACAG </TD><TD>D</TD><TD>1444_1447</TD><TD>ACAG</TD><TD></TD><TD>[1]</TD></TR><TR><TD>40</TD><TD>E487K </TD><TD>M</TD><TD>1459</TD><TD>G</TD><TD>A</TD><TD>[24]</TD></TR><TR><TD>41</TD><TD>I502T </TD><TD>M</TD><TD>1505</TD><TD>T</TD><TD>C</TD><TD>[25]</TD></TR><TR><TD>42</TD><TD>R503C </TD><TD>M</TD><TD>1507</TD><TD>C</TD><TD>T</TD><TD>[26]</TD></TR><TR><TD>43</TD><TD>P504L </TD><TD>M</TD><TD>1511</TD><TD>C</TD><TD>T</TD><TD>[1]</TD></TR><TR><TD>44</TD><TD>1545_1548delCTTT </TD><TD>D</TD><TD>1545_1548</TD><TD>CTTT</TD><TD></TD><TD>[27]</TD></TR><TR><TD>45</TD><TD>1569_1570delCA </TD><TD>D</TD><TD>1569_1570</TD><TD>CA</TD><TD></TD><TD>[1]</TD></TR><TR><TD>46</TD><TD>1634_1636delAAG </TD><TD>D</TD><TD>1634_1636</TD><TD>AAG</TD><TD></TD><TD>[1]</TD></TR><TR><TD>47</TD><TD>G549D </TD><TD>M</TD><TD>1646</TD><TD>G</TD><TD>A</TD><TD>[28]</TD></TR><TR><TD>48</TD><TD>Q550R </TD><TD>M</TD><TD>1649</TD><TD>A</TD><TD>G</TD><TD>[29]</TD></TR><TR><TD>49</TD><TD>D553N </TD><TD>M</TD><TD>1657</TD><TD>G</TD><TD>A</TD><TD>[30]</TD></TR><TR><TD>50</TD><TD>S588C </TD><TD>M</TD><TD>1763</TD><TD>C</TD><TD>G</TD><TD>[1]</TD></TR><TR><TD>51</TD><TD>G600R </TD><TD>M</TD><TD>1798</TD><TD>G</TD><TD>A</TD><TD>[9]</TD></TR><TR><TD>52</TD><TD>P604S </TD><TD>M</TD><TD>1810</TD><TD>C</TD><TD>T</TD><TD>[31]</TD></TR><TR><TD>53</TD><TD>1813_1814delGT </TD><TD>D</TD><TD>1813_1814</TD><TD>GT</TD><TD></TD><TD>[1]</TD></TR><TR><TD>54</TD><TD>D608H </TD><TD>M</TD><TD>1822</TD><TD>G</TD><TD>C</TD><TD>[9]</TD></TR><TR><TD>55</TD><TD>Y628S </TD><TD>M</TD><TD>1883</TD><TD>A</TD><TD>C</TD><TD>[32]</TD></TR><TR><TD>56</TD><TD>R631C </TD><TD>M</TD><TD>1891</TD><TD>C</TD><TD>T</TD><TD>[33]</TD></TR></TBODY></TABLE></DIV><DIV class=hdwiki_tmml>相关基因检测机构</DIV>本项目在美国已经开展多年，费用昂贵，约3000美元/人（单基因遗传病检测的均价），目前国内开展单基因疾病检测的机构及公司较少，价格比美国稍便宜，约1500美元/人，随着成本的下降，检测费用会更低。目前可以做单基因遗传病检测机构包括：<a href='http://www.jmdna.com' title='解码DNA分子医学检测中心'>解码DNA分子医学检测中心（上海）等基因检测机构</a><div><dl class=reference><dt>参考资料</dt><dd>[1].  Mol Genet Metab. 2006 Dec;89(4):323-31. Epub 2006 Sep 22.Identification of 16 new disease-causing mu</dd><dd>[2].  Mol Genet Metab. 2003 Jun;79(2):124-8.A splice junction mutation in muscle carnitine palmitoyltransf</dd><dd>[3].  J Hum Genet. 2003;48(1):8-13.A novel splice site mutation in neonatal carnitine palmitoyl transferas</dd><dd>[4].  PLoS Genet. 2005 Oct;1(4):e47.Evolutionary comparison provides evidence for pathogenicity of RMRP mu</dd><dd>[5].  PLoS Genet. 2005 Oct;1(4):e49.Evolutionary comparison provides evidence for pathogenicity of RMRP mu</dd><dd>[6].  PLoS Genet. 2005 Oct;1(4):e51.Evolutionary comparison provides evidence for pathogenicity of RMRP mu</dd><dd>[7].  Hum Mutat. 2000 Jun;15(6):579-82.Identification of novel mutations in Spanish patients with muscle c</dd><dd>[8].  Hum Mol Genet. 1995 Jan;4(1):19-29.Carnitine palmitoyltransferase II deficiency: structure of the ge</dd><dd>[9].  Hum Mutat. 2003 May;21(5):493-501.Correlation between genotype, metabolic data, and clinical present</dd><dd>[10].  Mol Genet Metab. 1998 Aug;64(4):229-36.Identification of four novel mutations in patients with carni</dd><dd>[11].  Hum Genet. 1996 Jul;98(1):116-8.Two novel gene mutations (Glu174-->Lys, Phe383-->Tyr) causing the he</dd><dd>[12].  Ann Neurol. 2005 Jan;57(1):60-6.Fuel utilization in subjects with carnitine palmitoyltransferase 2 g</dd><dd>[13].  Hum Mutat. 1999;13(3):210-20.Novel mutations associated with carnitine palmitoyltransferase II defic</dd><dd>[14].  Hum Mutat. 1999;13(3):210-21.Novel mutations associated with carnitine palmitoyltransferase II defic</dd><dd>[15].  Mol Aspects Med. 2004 Oct-Dec;25(5-6):495-520.Carnitine palmitoyltransferases 1 and 2: biochemical, </dd><dd>[16].  Lab Invest. 2003 Nov;83(11):1543-54.Carnitine palmitoyltransferase II deficiency: a clinical, bioche</dd><dd>[17].  Mol Genet Metab. 1999 Dec;68(4):424-40.Carnitine palmitoyltransferase deficiencies.</dd><dd>[18].  Hum Genet. 1996 Jul;98(1):116-8.Two novel gene mutations (Glu174-->Lys, Phe384-->Tyr) causing the he</dd><dd>[19].  Am J Kidney Dis. 2005 Mar;45(3):596-602.Carnitine palmitoyltransferase II deficiency due to a novel </dd><dd>[20].  Hum Mutat. 1999;13(3):210-26.Novel mutations associated with carnitine palmitoyltransferase II defic</dd><dd>[21].  Hum Mutat. 1999;13(3):210-22.Novel mutations associated with carnitine palmitoyltransferase II defic</dd><dd>[22].  Ann Neurol. 2005 Jan;57(1):60-6.Fuel utilization in subjects with carnitine palmitoyltransferase 3 g</dd><dd>[23].  Hum Mutat. 1999;13(3):210-23.Novel mutations associated with carnitine palmitoyltransferase II defic</dd><dd>[24].  J Child Neurol. 2000 Jun;15(6):390-3.Novel mutation in the CPT II gene in a child with periodic febr</dd><dd>[25].  Hum Mutat. 2000 Jun;15(6):579-81.Identification of novel mutations in Spanish patients with muscle c</dd><dd>[26].  Hum Mutat. 1999;13(3):210-24.Novel mutations associated with carnitine palmitoyltransferase II defic</dd><dd>[27].  Mol Genet Metab. 2002 Feb;75(2):181-5.A novel nonsense mutation (515del4) in muscle carnitine palmit</dd><dd>[28].  Hum Mutat. 1999;13(3):210-25.Novel mutations associated with carnitine palmitoyltransferase II defic</dd><dd>[29].  Mol Genet Metab. 1998 Aug;64(4):229-37.Identification of four novel mutations in patients with carni</dd><dd>[30].  Hum Mol Genet. 1995 Jan;4(1):19-30.Carnitine palmitoyltransferase II deficiency: structure of the ge</dd><dd>[31].  Mol Genet Metab. 1998 Aug;64(4):229-38.Identification of four novel mutations in patients with carni</dd><dd>[32].  Am J Hum Genet. 1996 May;58(5):971-8.Molecular analysis of carnitine palmitoyltransferase II deficie</dd><dd>[33].  Proc Natl Acad Sci U S A. 1992 Sep 15;89(18):8429-33.Molecular characterization of inherited carniti</dd></dl></div>