Knowledge on rare diseases and orphan drugs
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Emergency guidelines
Orphanet emergency guidelines are articles which are expert-authored and reviewed. They are intended to guide health care professionals in emergency situations occurring in patients affected of one of the rare diseases listed below.
List of diseases in alphabetical order
Translations are available in the following languages: French, German, Spanish, Italian, Polish, Portuguese, The most recent update is in French.
- Carbamoyl-phosphate synthetase 1 deficiency
- Carnitine palmitoyl transferase 1A deficiency
- Carnitine palmitoyl transferase II deficiency, severe infantile form
- Carnitine-acylcarnitine translocase deficiency
- Citrullinemia
- Citrullinemia type I
- Classic glucose transporter type 1 deficiency syndrome
- Congenital erythropoietic porphyria
- Glutaryl-CoA dehydrogenase deficiency
- Glycogen storage disease due to glucose-6-phosphatase deficiency
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
- Glycogen storage disease due to glycogen debranching enzyme deficiency
- Glycogen storage disease due to hepatic glycogen synthase deficiency
- Hepatoerythropoietic porphyria
- Hereditary angioedema
- Hereditary angioedema type 1
- Hereditary angioedema type 2
- Hereditary coproporphyria
- Homocystinuria due to cystathionine beta-synthase deficiency
- Hyperammonemia due to N-acetylglutamate synthase deficiency
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- Variegate porphyria
- Vascular Ehlers-Danlos syndrome
- Very long chain acyl-CoA dehydrogenase deficiency
- Vitamin B12-responsive methylmalonic acidemia
- Vitamin B12-responsive methylmalonic acidemia type cblA
- Vitamin B12-responsive methylmalonic acidemia type cblB
- Vitamin B12-responsive methylmalonic acidemia, type cblDv2
- Vitamin B12-unresponsive methylmalonic acidemia
- Vitamin B12-unresponsive methylmalonic acidemia type mut-
- Vitamin B12-unresponsive methylmalonic acidemia type mut0
Warning
Information in Orphanet is updated on a regular basis.It may happen that new discoveries are made in between updates and do not yet appear in the disease profile. The date of the last update is always indicated. Professionals are always encouraged to consult the most recent publications before making any decisions based on the information provided.
Orphanet emergency guidelines are produced in French and translated and adapted in 7 languages. Translated guidelines are validated by Emergency learned societies or by experts in each translation country. However, Orphanet emergency guidelines are not yet available in the 7 languages of Orphanet or for all rare diseases.
Some emergency guidelines are produced by partner learned societies.
The provided information is based on published scientific articles. These general texts may not apply to specific cases, due to the extensive variability of disease expression. It is of the utmost importance to check with a medical professional if the information is relevant or not to a specific case.