Laboratory Medicine ›› 2019, Vol. 34 ›› Issue (6): 479-485.DOI: 10.3969/j.issn.1673-8640.2019.06.001
• Orginal Article • Next Articles
Received:2018-06-25
Online:2019-06-30
Published:2019-07-04
CLC Number:
. [J]. Laboratory Medicine, 2019, 34(6): 479-485.
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URL: https://www.shjyyx.com/EN/10.3969/j.issn.1673-8640.2019.06.001
| 中文名称 | 英文全称 | 英文缩写 | 主要标志物 | 相关比例 |
|---|---|---|---|---|
| 氨基酸代谢病 | ||||
| 高苯丙氨酸血症 | hyperphenylalaninemia | HPA | Phe | Phe/Tyr |
| 枫糖尿病 | maple syrup urine disease | MSUD | Leu+Ile、Val | Leu/Phe |
| 氨甲酰磷酸合成酶缺乏症 | carbamyl phosphate synthase deficiency | CPS | Cit | |
| 鸟氨酸氨甲酰磷酸转移酶缺乏症 | ornithine transcarbamylase deficiency | OTCD | Cit | |
| 瓜氨酸血症Ⅰ型 | citrullinemia type Ⅰ | CIT Ⅰ | Cit | Cit/Arg |
| 瓜氨酸血症Ⅱ型（希特林蛋白缺 乏症） | citrullinemia type Ⅱ（citrin deficiency） | CIT Ⅱ | Cit | Cit/Arg |
| 精氨酰琥珀酸尿症 | argininosuccinic aciduira | ASA | Cit | |
| 精氨酸血症 | arginemia | ARG | Arg | |
| 高鸟氨血症、高氨血症、 同型瓜氨酸尿症综合症 | hyperornithinemia、hyperammonemia、 homocitrullinuria syndrome | HHH | Orn、Cit | |
| 高鸟氨酸血症 | hyperornithinemia | ORN | Orn | |
| 同型半胱氨酸尿症 | homocystinuria | HCY | Met | Met/Phe |
| 高甲硫氨酸血症 | hypermethioninemia | MET | Met | Met/Phe |
| 酪氨酸血症Ⅰ型 | tyrosinemia type Ⅰ | TYRⅠ | Tyr、SUAC | Tyr/Cit |
| 酪氨酸血症Ⅱ型 | tyrosinemia type Ⅱ | TYRⅡ | Tyr | Tyr/Cit |
| 酪氨酸血症Ⅲ型 | tyrosinemia type Ⅲ | TYRⅢ | Tyr | Tyr/Cit |
| 非酮性高甘氨酸血症 | nonketotic hyperglycinemia | NKHG | Gly | |
| 高脯氨酸血症 | hyperprolinuria | PRO | Pro | |
| 5-羟脯氨酸血症 | 5-oxprolinuria （pyroglutamic aciduria） | 5-OPRO | Leu+Ile+ Pro-OH | |
| 有机酸血症 | ||||
| 甲基丙二酸血症 | methylmalonic acidemia | MMA | C3 | C3/C2、C3/Met |
| 丙酸血症 | propionic acidemia | PA | C3 | C3/C2 |
| 异戊酸血症 | isovaleric acidemia | IVA | C5 | C5/C2、C5/C3 |
| 戊二酸血症Ⅰ型 | glutaric acidemia type Ⅰ | GA-Ⅰ | C5-DC | C5-DC/C8 |
| 3-甲基巴豆酰辅酶A羧化酶缺乏症 | 3-methylcrotonyl-CoA carboxylase deficiency | 3-MCC | C5-OH | C5-OH/C8 |
| 3-甲基戊烯二酰辅酶A水解酶缺 乏症 | 3-methylglutaconyl-CoA hydratase deficiency | 3-MGA | C5-OH | C5-OH/C3 |
| 3-羟-3-甲基戊二酰辅酶A裂解酶 缺乏症 | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency | HMG | C5-OH、 C6-DC | C5-OH/C3 |
| 全羧化酶合成酶缺乏症 | holocarboxylase synthetase deficiency | HCS | C5-OH | C5-OH/C3 |
| 生物素酶缺乏症 | biotinidase deficiency | BTD | C5-OH | C5-OH/C3 |
| β-酮硫解酶缺乏症 | beta-ketothiolase deficiency | BKD | C5：1、 C5-OH | C5-OH/C3 |
| 丙二酸血症 | malonic acidemia | MAL | C3-DC | C3-DC/C3 |
| 2-甲基丁酰辅酶A脱氢酶缺乏症 | 2-methylbutryl-CoA dehydrogenase deficiency | 2-MBD | C5 | C5/C3 |
| 异丁酰辅酶A脱氢酶缺乏症 | isobutyryl-CoA dehydrogenase deficiency | IBD | C4 | C4/C3 |
| 2-甲基-3羟基丁酰辅酶A脱氢酶 缺乏症 | 2-methyl-3-hydoxybutryl CoA dehydrogenase deficiency | MHBD | C5-OH | C5-OH/C3 |
| 脂肪酸氧化代谢障碍性疾病 | ||||
| 原发性肉碱缺乏症 | primary carnitine deficiency | PCD | C0 | |
| 肉碱棕榈酰转移酶Ⅰ缺乏症 | carnitine palmitoyl transferase deficiency type Ⅰ | CPT-Ⅰ | C0 | C0/（C16+ C18） |
| 肉碱棕榈酰转移酶Ⅱ缺乏症 | carnitine palmitoyl transferase deficiency type Ⅱ、 | CPT-Ⅱ | C16、C18：1、 C18：2、 C18 | C0/（C16+ C18） |
| 中文名称 | 英文全称 | 英文缩写 | 主要标志物 | 相关比例 |
| 肉碱/酰基肉碱移位酶缺乏症 | carnitine/acylcarnitine translocase deficiency | CACT | C16、C18：1、 C18：2、 C18 | C0/（C16+C18） |
| 短链酰基辅酶A脱氢酶缺乏症 | short chain acyl CoA dehydrogenase deficiency | SCAD | C4 | C4/C3 |
| 中链酰基辅酶A脱氢酶缺乏症 | medium chain acyl CoA dehydrogenase deficiency | MCAD | C8、C10：1 | C8/C10 |
| 极长链酰基辅酶A脱氢酶缺乏症 | very long chain acyl CoA dehydrogenase deficiency | VLCAD | C14：1、C14：2、 C14 | C14：1/C12：1、 C14：1/C16 |
| 短链羟酰基辅酶A脱氢酶缺乏症 | short chain hydroxyacyl CoA dehydrogenase deficiency | SCHAD | C4-OH | |
| 长链羟酰基辅酶A脱氢酶缺乏症 | long chain hydroxyacyl CoA dehydrogenase deficiency | LCHAD | C14-OH、 C16-OH、 C18-OH、 C18：1-OH | C16-0H/C16 |
| 多种酰基辅酶A脱氢酶缺乏症 | multiple acyl CoA dehydrogenase deficiency | MADD | C4-C18 | |
| 2、4-二烯酰辅酶A脱氢酶缺乏症 | 2、4-dienoyl-CoA reductase deficiency | De-Red | C10：2 | C10：2/C10 |
| 三功能蛋白缺乏症 | trifunctional protein deficiency | TFP | C14-OH、C16- OH、C18-OH、 C18：1-OH | C16-0H/C16 |
| 中链3-酮酰基辅酶A硫解酶缺乏症 | medium chain 3-keto acyl CoA thiolase deficiency | MCKAT | C3DC、C6DC、 C8DC | |
| 乙基丙二酸脑病 | ethylmalonic encephalopathy | EE | C4、C5 |
| 中文名称 | 英文全称 | 英文缩写 | 主要标志物 | 相关比例 |
|---|---|---|---|---|
| 氨基酸代谢病 | ||||
| 高苯丙氨酸血症 | hyperphenylalaninemia | HPA | Phe | Phe/Tyr |
| 枫糖尿病 | maple syrup urine disease | MSUD | Leu+Ile、Val | Leu/Phe |
| 氨甲酰磷酸合成酶缺乏症 | carbamyl phosphate synthase deficiency | CPS | Cit | |
| 鸟氨酸氨甲酰磷酸转移酶缺乏症 | ornithine transcarbamylase deficiency | OTCD | Cit | |
| 瓜氨酸血症Ⅰ型 | citrullinemia type Ⅰ | CIT Ⅰ | Cit | Cit/Arg |
| 瓜氨酸血症Ⅱ型（希特林蛋白缺 乏症） | citrullinemia type Ⅱ（citrin deficiency） | CIT Ⅱ | Cit | Cit/Arg |
| 精氨酰琥珀酸尿症 | argininosuccinic aciduira | ASA | Cit | |
| 精氨酸血症 | arginemia | ARG | Arg | |
| 高鸟氨血症、高氨血症、 同型瓜氨酸尿症综合症 | hyperornithinemia、hyperammonemia、 homocitrullinuria syndrome | HHH | Orn、Cit | |
| 高鸟氨酸血症 | hyperornithinemia | ORN | Orn | |
| 同型半胱氨酸尿症 | homocystinuria | HCY | Met | Met/Phe |
| 高甲硫氨酸血症 | hypermethioninemia | MET | Met | Met/Phe |
| 酪氨酸血症Ⅰ型 | tyrosinemia type Ⅰ | TYRⅠ | Tyr、SUAC | Tyr/Cit |
| 酪氨酸血症Ⅱ型 | tyrosinemia type Ⅱ | TYRⅡ | Tyr | Tyr/Cit |
| 酪氨酸血症Ⅲ型 | tyrosinemia type Ⅲ | TYRⅢ | Tyr | Tyr/Cit |
| 非酮性高甘氨酸血症 | nonketotic hyperglycinemia | NKHG | Gly | |
| 高脯氨酸血症 | hyperprolinuria | PRO | Pro | |
| 5-羟脯氨酸血症 | 5-oxprolinuria （pyroglutamic aciduria） | 5-OPRO | Leu+Ile+ Pro-OH | |
| 有机酸血症 | ||||
| 甲基丙二酸血症 | methylmalonic acidemia | MMA | C3 | C3/C2、C3/Met |
| 丙酸血症 | propionic acidemia | PA | C3 | C3/C2 |
| 异戊酸血症 | isovaleric acidemia | IVA | C5 | C5/C2、C5/C3 |
| 戊二酸血症Ⅰ型 | glutaric acidemia type Ⅰ | GA-Ⅰ | C5-DC | C5-DC/C8 |
| 3-甲基巴豆酰辅酶A羧化酶缺乏症 | 3-methylcrotonyl-CoA carboxylase deficiency | 3-MCC | C5-OH | C5-OH/C8 |
| 3-甲基戊烯二酰辅酶A水解酶缺 乏症 | 3-methylglutaconyl-CoA hydratase deficiency | 3-MGA | C5-OH | C5-OH/C3 |
| 3-羟-3-甲基戊二酰辅酶A裂解酶 缺乏症 | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency | HMG | C5-OH、 C6-DC | C5-OH/C3 |
| 全羧化酶合成酶缺乏症 | holocarboxylase synthetase deficiency | HCS | C5-OH | C5-OH/C3 |
| 生物素酶缺乏症 | biotinidase deficiency | BTD | C5-OH | C5-OH/C3 |
| β-酮硫解酶缺乏症 | beta-ketothiolase deficiency | BKD | C5：1、 C5-OH | C5-OH/C3 |
| 丙二酸血症 | malonic acidemia | MAL | C3-DC | C3-DC/C3 |
| 2-甲基丁酰辅酶A脱氢酶缺乏症 | 2-methylbutryl-CoA dehydrogenase deficiency | 2-MBD | C5 | C5/C3 |
| 异丁酰辅酶A脱氢酶缺乏症 | isobutyryl-CoA dehydrogenase deficiency | IBD | C4 | C4/C3 |
| 2-甲基-3羟基丁酰辅酶A脱氢酶 缺乏症 | 2-methyl-3-hydoxybutryl CoA dehydrogenase deficiency | MHBD | C5-OH | C5-OH/C3 |
| 脂肪酸氧化代谢障碍性疾病 | ||||
| 原发性肉碱缺乏症 | primary carnitine deficiency | PCD | C0 | |
| 肉碱棕榈酰转移酶Ⅰ缺乏症 | carnitine palmitoyl transferase deficiency type Ⅰ | CPT-Ⅰ | C0 | C0/（C16+ C18） |
| 肉碱棕榈酰转移酶Ⅱ缺乏症 | carnitine palmitoyl transferase deficiency type Ⅱ、 | CPT-Ⅱ | C16、C18：1、 C18：2、 C18 | C0/（C16+ C18） |
| 中文名称 | 英文全称 | 英文缩写 | 主要标志物 | 相关比例 |
| 肉碱/酰基肉碱移位酶缺乏症 | carnitine/acylcarnitine translocase deficiency | CACT | C16、C18：1、 C18：2、 C18 | C0/（C16+C18） |
| 短链酰基辅酶A脱氢酶缺乏症 | short chain acyl CoA dehydrogenase deficiency | SCAD | C4 | C4/C3 |
| 中链酰基辅酶A脱氢酶缺乏症 | medium chain acyl CoA dehydrogenase deficiency | MCAD | C8、C10：1 | C8/C10 |
| 极长链酰基辅酶A脱氢酶缺乏症 | very long chain acyl CoA dehydrogenase deficiency | VLCAD | C14：1、C14：2、 C14 | C14：1/C12：1、 C14：1/C16 |
| 短链羟酰基辅酶A脱氢酶缺乏症 | short chain hydroxyacyl CoA dehydrogenase deficiency | SCHAD | C4-OH | |
| 长链羟酰基辅酶A脱氢酶缺乏症 | long chain hydroxyacyl CoA dehydrogenase deficiency | LCHAD | C14-OH、 C16-OH、 C18-OH、 C18：1-OH | C16-0H/C16 |
| 多种酰基辅酶A脱氢酶缺乏症 | multiple acyl CoA dehydrogenase deficiency | MADD | C4-C18 | |
| 2、4-二烯酰辅酶A脱氢酶缺乏症 | 2、4-dienoyl-CoA reductase deficiency | De-Red | C10：2 | C10：2/C10 |
| 三功能蛋白缺乏症 | trifunctional protein deficiency | TFP | C14-OH、C16- OH、C18-OH、 C18：1-OH | C16-0H/C16 |
| 中链3-酮酰基辅酶A硫解酶缺乏症 | medium chain 3-keto acyl CoA thiolase deficiency | MCKAT | C3DC、C6DC、 C8DC | |
| 乙基丙二酸脑病 | ethylmalonic encephalopathy | EE | C4、C5 |
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