丙酸血症介绍(MEDLINE 版).docVIP

PROPIONICACIDEMIA PROPIONYL-CoACARBOXYLASEDEFICIENCYPCCDEFICIENCYGLYCINEMIA,KETOTICHYPERGLYCINEMIAWITHKETOACIDOSISANDLEUKOPENIAKETOTICHYPERGLYCINEMIA 丙酰辅酶A羧化酶缺乏症 甘氨酸血症，酮症，伴高甘氨酸血症的酮症酸中毒和白细胞减少症酮症性高甘氨酸血症 PhenotypeGeneRelationships Location Phenotype PhenotypeMIMnumber Gene/Locus Gene/LocusMIMnumber 3q22.3 Propionicacidemia 606054 PCCB 232050 13q32.3 Propionicacidemia 606054 PCCA 232000 ClinicalSynopsis Anumbersign(#)isusedwiththisentrybecausepropionicacidemiaiscausedbymutationinthegenesencodingpropionyl-CoAcarboxylase,PCCA(232000)orPCCB(232050). CellsfrompatientswithmutationsinthePCCAgenefallintocomplementationgrouppccA. CellsfrompatientswithmutationsinthePCCBgenefallintocomplementationgrouppccBC.MutationsinthepccBsubgroupoccurintheNterminusofthePCCBgene, whichincludesthebiotin-bindingsite, whereasmutationsinthepccCsubgroupoccurintheCterminusofthePCCBgene(Fentonetal.,2001). 临床概要 数字符号（＃）用于标志此项目，因为丙酸血症是由于编码丙酰辅酶A羧化酶的基因突变； ，PCCA（232000），PCCB（232050）。 患儿突变的细胞中，PCCA基因下降到互补组形成pccA。PCCB基因下移互补组成pccBC，pccB亚组的突变发生在PCCB基因的N终端，其中包括生物素结合位点，而在PccC亚组突变发生在PCCB基因的C端，（芬顿等，2001）。 ClinicalFeatures Thefeaturesofpropionicacidemiaareepisodicvomiting,lethargyandketosis,neutropenia,periodicthrombocytopenia,hypogammaglobulinemia,developmentalretardation,andintolerancetoprotein. Outstandingchemicalfeaturesarehyperglycinemiaandhyperglycinuria.Thisdisorderisnottobeconfusedwithhereditaryglycinuria(138500),whichispresumablytransmittedasadominant. 临床特点 丙酸血症的特点是发作性呕吐，嗜睡和酮症，中性粒细胞减少症，周期性血小板减少症，免疫球蛋白低下，发育迟缓，蛋白质不耐受。 杰出的化学特征是高甘氨酸血症与高氨酸尿症； 这种疾病与遗传性甘氨酸尿症可以容易鉴别（138500可能是显性遗传）， Sorianoetal.(1967)suggestedthatinthedisorderfirstdescribedbyChildsetal.(1961),ageneralizeddefectinutilizationofaminoacidsresultsinexcessivedeaminationofcertainaminoacidsinmuscle,withconsequenthyperammonemiaandketoacidosis. Inasecondgroupofpatientswhosedisorderisalsotermedhyperglycinemia,ketoacidosis,neutropenia,andthrombocytopeniahavenotbeenobservedandglycineistheonlyaminoacidpresentinexcessinserumandurine;seeglycineencephalopath