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 and Portuguese. The most recent update is in French.
- Carnitine transporter deficiency (BIMDG guidelines)
- CPS (carbamoylphosphatase synthetase) deficiency (BIMDG guidelines)
- GLUT1 deficiency syndrome (BIMDG guidelines)
- Glutaric aciduria type 1 (BIMDG guidelines)
- Glycogen debranching enzyme deficiency (BIMDG guidelines)
- Glycogenosis due to glucose 6 phosphatase deficiency (BIMDG guidelines)
- Glycogenosis due to glucose 6 phosphatase deficiency type 1b (BIMDG guidelines)
- Malignant hyperthermia
- Maple syrup urine disease (BIMDG guidelines)
- Marfan Syndrome
- Medium chain fat oxidation disorders (BIMDG guidelines)
- Methyl malonic acidemia (BIMDG guidelines)
- Autoimmune myasthenia
- Type 1 autoimmune polyendocrinopathy
- Acute hepatic porphyria neuro-visceral crisis
- Cutaneous porphyrias
- Propionic acidemia (BIMDG guidelines)
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.