項次

藥品名稱

成分

適應症

最小

配送

單位

劑量規格

最小包裝

廠牌

(藥證持有廠商)

1

Tetrahydrobiopterin(BH4)

Sapropterin dihydrochloride 10mg

四氫基喋呤缺乏症/PKU (Tetrahydrobiopterin deficiency)

10mg/Tab

10Tabs/Blist

10Blists/BOX

科懋公司委託

五洲製藥製造

2

Carbaglu 200mg

carglumic acid

用以治療因N-acetylglutamate synthase(NAGS) deficiency、isovaleric acidaemia(IVA)、methymalonic acidaemia(MMA)及propionic acidaemia(PA)引起之高血氨症。

200mg/tab

5tabs/BT

Orphan Europe

3

Cystadane

Betaine anhydrous

高胱胺酸尿症(Homocystinuria)

180g/BT

180g/BT

Orphan Europe

4

Normosang

Human Hemin 25mg/ml

紫質症 (porphyria)

250 mg

/Amp

4Amps/Box

Orphan Europe

5

PURE SODIUM BENZOATE CAPSULES

250MG

Sodium Benzoate Capsules 250mg

非酮性高甘胺酸血症(Non-Ketotic hyperglycinemia)

250mg

/Cap

100Caps/BT

科進公司委託聯亞藥廠製造

6

STIMOL

50% Citrulline malate solution 2.00g

先天性因citrulline缺乏引起尿素代謝異常之高血氨症(Inborn errors of metabolism caused by the carnitine deficiency)

1g/10ml

/Sachet

36Sachets/Box

Laboratoires Biocodex

7

Phenbuty 芬必提

Sodium Phenylbutyrate

尿素循環障礙(Urea cycle disorders) 3-氫基-3-甲基戊二酸血症(3-Hydroxy-3-methyl-glutaric acidemia)

500mg/Tab

250Tabs/BT

旭能醫藥生技

股份有限公司

8

CARNITENE

L-carnitine inner salt 1.00g

用於先天遺傳性代謝異常的續發性carnitine缺乏症個案之急性慢性治療

(Congenital metabolic exception of the renewal of carnitine deficiency)

1g/Tab

10Tabs/Box

Sigma-tau

9

L-Arginin-Hydro-

chlorid 21%

Arginine

尿素循環障礙(Urea cycle disorders)

210mg/ml

20ml/Amp

5Amps/Box

B.Braun Melsungen AG

10

KUVAN 100 mg

"Sapropterin

Dihydrochloride 100mg"

四氫基喋呤缺乏症/PKU (Tetrahydrobiopterin deficiency)

100mg/Tab1

30Tabs/BT

BioMarin International Limited

11

Proglycem

(diazoxide, USP)

Diazoxide

持續性幼兒型胰島素過度分泌低血糖症

(Persistent hyperinsulinemic hypoglycemia of infancy )(PHHI)

50mg/ml

30ml/BT

TEVA PHARMACEUTICALS USA


下載連結:http://www.cmuh.cmu.edu.tw/web/file/罕見疾病緊急需用藥物名稱及適應症一覽表0216.docx