5C50.B
甲硫氨酸循环或硫氨基酸代谢紊乱
Disorders of methionine cycle or sulphur amino acid metabolism
- 层级
- 5 级
跨章引用 同一概念在其他章节另有编码
索引词 可用于检索该条目的同义词与别名
- 甲硫氨酸循环或硫氨基酸代谢紊乱
- 载硫氨基酸代谢紊乱
- 含硫氨基酸紊乱,包括叶酸和b12干扰引起的氨基酸紊乱
- 含硫氨基酸代谢紊乱
- 转硫作用紊乱
- 转硫作用紊乱
- 含硫氨基酸代谢失调
- 载硫氨基酸血症
- 甲硫氨酸腺苷转移酶缺乏引起的脑脱髓鞘
- MAT I/III[蛋氨酸腺苷转移酶I/III]缺乏
- 甲硫氨酸腺苷转移酶I/III缺乏
- 单纯持续性高甲硫氨酸血症
- 单纯持续性高蛋氨酸血症
- 蛋氨酸腺苷转移酶I/III缺乏
- 甘氨酸N-甲基转移酶缺乏
- GNMT[甘氨酸N-甲基转移酶缺乏]
- S-腺苷高半胱氨酸水解酶缺乏引起的精神运动发育迟缓和肌病
- S-腺苷高半胱氨酸水解酶缺乏引起的高甲硫氨酸血症
- S-腺苷高半胱氨酸水解酶缺乏引起的高蛋氨酸血症
- 胱硫醚尿症
- CTH[胱硫醚尿]
- 胱硫醚代谢紊乱
- γ-胱硫醚酶缺乏
- 胱硫醚γ裂解酶缺乏
- 半胱胺甲硫胺酸尿症
- 经典型同型半胱氨酸尿症
- 胱硫醚合成酶缺乏
- 同型胱氨酸代谢紊乱
- CBS[胱硫醚β合酶]缺乏
- 胱硫醚β合酶缺乏引起的同型半胱氨酸尿症
- 胱硫醚β合酶缺乏
- 同型半胱氨酸尿症不伴甲基丙二酸尿症
- N5-甲基同型半胱氨酸转移酶缺乏
- 5-甲基四氢叶酸-同型半胱氨酸S-甲基转移酶缺乏症
- 甲硫氨酸合成酶缺乏
- 甲钴胺缺乏
- 蛋氨酸合成酶缺乏
- 甲基钴胺素缺乏
- 甲钴胺缺乏症cbl E型
- 甲基化缺陷引起的同型半胱氨酸尿症
- 钴胺素代谢缺陷引起的同型半胱氨酸尿症-巨幼细胞贫血,cbl E互补型
- 甲钴胺缺乏症cbl G型
- 甲硫氨酸合成酶缺乏引起的同型半胱氨酸尿症Cbl G型
- 钴胺素代谢缺陷引起的同型半胱氨酸尿症-巨幼细胞贫血,cbl G互补型
- 甲钴胺缺乏cbl Dv1型
- 亚硫酸盐氧化酶缺乏引起的脑病
- 单纯亚硫酸盐氧化酶缺乏
- ISOD[单纯亚硫酸盐氧化酶缺乏]
- 钼辅因子缺乏引起的亚硫酸盐氧化酶缺乏
- 亚硫酸盐氧化酶、黄嘌呤脱氢酶和醛氧化酶联合缺乏症
- 钼辅因子缺乏症,互补A群
- MOCS1基因缺陷引起的钼辅因子缺乏症
- 钼辅因子缺乏症,互补B群
- MOCS2基因缺陷性钼辅因子缺乏症
- 钼辅因子缺乏症,互补C群
- 腺苷激酶缺乏引起的高甲硫氨酸血症
- 腺苷激酶缺乏引起的高蛋氨酸血症
- 其他遗传性甲硫氨酸循环或含硫氨基酸代谢缺陷
- 其他遗传性蛋氨酸循环或含硫氨基酸代谢缺陷
- 继发性非遗传性甲硫氨酸循环或含硫氨基酸代谢紊乱
- 继发性非遗传性蛋氨酸循环或含硫氨基酸代谢紊乱
- 啤酒-婴儿综合征
- 胱硫醚血症
- 胱硫醚酶缺乏
- 半胱氨酸脱硫基酶缺乏
- 半胱氨酸脱硫基酶缺乏
- 胱氨酸脱硫基酶缺乏
- 胱氨酸脱硫基酶缺乏
- 高丝氨酸脱氨酶缺乏
- 甲硫氨酸腺苷转移酶缺乏
- 家族性蛋氨酸吸收不良
- 肝蛋氨酸腺苷转移酶缺乏
- 高胱氨酸血症
- 高蛋氨酸血症
- 甲硫氨酸代谢紊乱
- 蛋氨酸代谢紊乱
- 甲硫氨酸吸收不良综合征
- 干蛇麻症
- 干蛇麻尿病
- 干蛇麻症
- 干蛇麻尿病
- Smith-Strang病
- 啤酒花烤房尿病
- 蛋氨酸吸收不良病
- 啤酒花烤房病
- 亚硫酸盐氧化酶缺乏症
- 亚硫酸盐氧化酶缺乏综合征
- 亚硫酸盐氧化酶缺乏
- 硫代胱氨酸尿症
- 硫代胱氨酸尿症
英文词条(77)
- Disorders of methionine cycle or sulphur amino acid metabolism
- Disorders of sulphur-bearing amino-acid metabolism
- disorder of sulphur-bearing amino acid including those due to folate and b12 disturbance
- disorder of sulphur-bearing amino acid metabolism
- disorder of transsulfuration
- disorder of transsulphuration
- disturbances of sulphur-bearing amino-acid metabolism
- sulphuraminoacidaemia
- Brain demyelination due to methionine adenosyltransferase deficiency
- Isolated persistent hypermethioninaemia
- MAT I/III - [Methionine adenosyltransferase I/III] deficiency
- Methionine adenosyltransferase I/III deficiency
- Glycine N-methyltransferase deficiency
- GNMT - [Glycine N-methyltransferase] deficiency
- Psychomotor retardation and myopathy due to S-adenosylhomocysteine hydrolase deficiency
- Hypermethioninaemia due to S-adenosylhomocysteine hydrolase deficiency
- Cystathioninuria
- CTH - [cystathioninuria]
- Cystathione gamma-lyase deficiency
- Gamma-cystathionase deficiency
- cystathionine metabolic disorder
- Classical homocystinuria
- CBS - [Cystathionine beta-synthase] deficiency
- Cystathionine beta-synthase deficiency
- Homocystinuria due to cystathionine beta-synthase deficiency
- cystathionine synthase deficiency
- homocystine metabolic disorder
- Homocystinuria without methylmalonic aciduria
- 5-methyltetrahydrofolate-homocysteine s-methyltransferase deficiency
- Methionine synthase deficiency
- Methylcobalamin deficiency
- N5-methylhomocysteine transferase deficiency
- Methylcobalamin deficiency type cbl E
- Homocystinuria - megaloblastic anaemia due to defect in cobalamin metabolism, cbI E complementation type
- Homocystinuria due to defect in methylation type cbl E
- Methylcobalamin deficiency type cbl G
- Homocystinuria - megaloblastic anaemia due to defect in cobalamin metabolism, cbI G complementation type
- Homocystinuria due to methionine synthase deficiency type Cbl G
- Methylcobalamin deficiency type cbl Dv1
- Encephalopathy due to sulfite oxidase deficiency
- Isolated sulfite oxidase deficiency
- ISOD - [Isolated sulfite oxidase deficiency]
- Sulfite oxidase deficiency due to molybdenum cofactor deficiency
- Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase
- Molybdenum cofactor deficiency, complementation group A
- Molybdenum cofactor deficiency due to defects in MOCS1 gene
- Molybdenum cofactor deficiency, complementation group B
- Molybdenum cofactor deficiency due to defects in MOCS2 gene
- Molybdenum cofactor deficiency, complementation group C
- Hypermethioninaemia due to adenosine kinase deficiency
- Other genetic defects of methionine cycle or sulfur amino acid metabolism
- Secondary non-genetic disorders of methionine cycle or sulfur amino acid metabolism
- Beery-baby syndrome
- Cystathioninemia
- Deficiency of cystathionase
- Deficiency of cysteine desulfhydrase
- deficiency of cysteine desulphydrase
- deficiency of cystine desulfhydrase
- deficiency of cystine desulphydrase
- Deficiency of homoserine deaminase
- Deficiency of methionine adenosyltransferase
- Familial methionine malabsorption
- Hepatic methionine adenosyltransferase deficiency
- Homocystinaemia
- Hypermethioninaemia
- methionine metabolic disorder
- Methionine malabsorption syndrome
- Smith-Strang disease
- oast-house disease
- oast-house urine disease
- oasthouse disease
- oasthouse urine disease
- Sulfite oxidase deficiency
- sulfite oxidase deficiency syndrome
- sulfocysteinuria
- sulphite oxidase deficiency
- sulphocysteinuria
后组配轴 Postcoordination
后组配是在主干编码之后追加的可选扩展轴(如侧别、具体解剖部位、严重程度),用于把「部位 + 侧别 + 病程」等细节一次表达完整。只有标注「必填」的轴在组合编码时必须给出,其余可留空。
- 临床表现hasManifestation可选