CAJ | 학술논문

甲基丙二酸尿症伴同型半胱氨酸尿症是常染色体隐性遗传病，表现为先天性维生素 B12代谢异常，分为 cblC、cblD、cblF三种亚型，以cblC最多见。确诊方法为气相色谱－质谱和串联质谱检查，皮肤成纤维细胞酶活性及互补实验和基因突变分析可明确分型。早发型1岁内发病，多累及眼部，常伴有视力下降、眼球震颤、斜视、视网膜及黄斑病变、视神经萎缩、电生理异常等表现。迟发型4岁后发病，偶累及眼部，症状较轻。眼部病变发病机制可能与高半胱氨酸水平、氧化应激及神经系统发育异常有关。眼科治疗主要为对症治疗，早期补充蛋氨酸或谷胱甘肽等抗氧化剂可能有助于治疗或缓解视网膜病变。目前我国缺少对此病患者行常规眼科检查。建立科室间合作及早期规律眼科检查对患儿视力等预后有特殊意义。
갑기병이산뇨증반동형반광안산뇨증시상염색체은성유전병，표현위선천성유생소 B12대사이상，분위 cblC、cblD、cblF삼충아형，이cblC최다견。학진방법위기상색보－질보화천련질보검사，피부성섬유세포매활성급호보실험화기인돌변분석가명학분형。조발형1세내발병，다루급안부，상반유시력하강、안구진전、사시、시망막급황반병변、시신경위축、전생리이상등표현。지발형4세후발병，우루급안부，증상교경。안부병변발병궤제가능여고반광안산수평、양화응격급신경계통발육이상유관。안과치료주요위대증치료，조기보충단안산혹곡광감태등항양화제가능유조우치료혹완해시망막병변。목전아국결소대차병환자행상규안과검사。건립과실간합작급조기규률안과검사대환인시력등예후유특수의의。
? Methylmalonicaciduia ( MMA ) accompanied with homocystinuria is a rare autosomal -recessive with congenital metabolic disorder of Vitamin B12.There are three subtypes, cblC, cblD, cblF, in which cblC is the most common one.The diagnostic tests are tandem mass spectrometry and gas chromatography - mass spectrometry.Tests for activity of enzyme in fibroblasts from skin, complementary assay and genetic analysis can be used to make the subtype clear.Early-onset patients, defined by onset of symptoms before the age of 1 year, may have severe ocular involvement, including visual loss, nystagmus, strabismus, retinopathy, maculopathy, optic atrophy, abnormal electroretinography.Late-onset patients, defined by onset of symptoms after the age of 4 year, rarely have ocular manifestations.The pathogenesis of the ophthalmic symptoms may be related to the high level of homocystine, oxidative stress and the abnormal development of nervous systems.The treatment for MMA accompanied with homocystinuria is mostly symptomatic based.Ophthalmic treatment is limited.Early supplement of methionine,GSH or other antioxidants may be helpful for retinopathy.There is no standard ophthalmological examination for those patients in China.It is critical to set up inter -departmental cooperation and early stage examination for the treatments and outcomes of the patients.