浙江省物价局 浙江省卫生厅关于核定新生儿疾病筛查收费标准的复函

代号

氨基酸类

中文名称

1

Phenylketonuria

苯酮尿症

2

Homocystinuria

高胱氨酸尿症

3

Maple Syrup Urine Disease

枫糖尿症

4

Tyrosinemia

酪氨酸血症

5

Citrullinemia

瓜氨酸血症

6

Argininemia

精氨酸血症

7

Hyperammonemia，Hyperornithinemia

Homocitrullinuria Syndrome

高氨血症

脂肪酸类

8

Very Long Chain Acyl-CoA Dehydrogenase Deficiency

(VLCAD)

极长链脂肪酸代谢

异常

9

Long Chain hydroxyl Acyl-CoA Dehydrogenase Deficiency

(LCHAD)

长链脂肪酸代谢异常

10

Medium Chain Acyl-CoA Dehydrogenase Deficiency(MCAD)

中链脂肪酸代谢异常

11

Short Chain Acyl-CoA Dehydrogenase Deficiency(SCAD)

短链脂肪酸代谢异常

12

Carnitine/acylcarnitine Tanslocase Deficiency

肉碱穿透障碍

13

Carnitine Palmitoyl Transferase Deficiency Type I  (CPT-I)

肉碱结合酶缺乏症

第一型

14

Carnitine Palmitoyl Transferase Deficiency Type II  (CPT-II)

肉碱结合酶缺乏症

第二型

15

Carnitine Transporter Defect

肉碱吸收障碍

有机酸类

16

Multiple CoA carboxylase deficiency

多种辅酶A羧化酶缺乏症

17

Multiple Acyl-CoA Dehydrogenase Deficiency  (GA-II)

戊二酸血症第二型

18

Methylmalonic Acidemia  (MMA)

甲基丙二酸血症

19

Propionic Acidemia  (PA)

丙酸血症

20

Isovaleric Acidemia  (IVA)

异戊酸血症

21

3-Methylcrotonyl-CoA Carboxylase Deficiency  (3-MCC)

3-甲基巴豆酰辅酶Α羧化酶缺乏症

22

3-Hydroxy-3-Methylglutaric Aciduria  (HMG)

3-羟基-3-甲基戊二酸尿症

23

Trifunctional protein deficiency

三功能蛋白缺乏症

24

Ethylmalonic Acidemia

乙基丙二酸血症

25

Malonic Acidemia

丙二酸血症

26

Isobutyryl CoA dehydrogenase deficiency

异戊辅酶Α脱氢酶缺乏症