To save content items to your account,
please confirm that you agree to abide by our usage policies.
If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account.
Find out more about saving content to .
To save content items to your Kindle, first ensure email@example.com
is added to your Approved Personal Document E-mail List under your Personal Document Settings
on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part
of your Kindle email address below.
Find out more about saving to your Kindle.
Note you can select to save to either the @free.kindle.com or @kindle.com variations.
‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi.
‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.
Acute intermittent porphyria (AIP) is a rare autosomal dominant inherited metabolic disease characterized by mutations in the porphobilinogen deaminase gene. This mutation may provoke neurotoxic levels of delta-aminolevulinic-acid and porphobilinogen, potentially resulting in an acute life-threatening clinical syndrome, characterized by psychiatric, in particular atypical psychotic, symptoms as well as severe neurological and gastrointestinal symptoms. Since the clinical presentation varies and symptoms are nonspecific, diagnosis is often made late.
Naming of alarm symptoms based on a recent case study.
Description of a recent case supplemented with data from the literature.
The patient is a 46 year old woman who was admitted in 2007 with abdominal pain, an epileptic seizure and weakness, interpreted as a Guillain-Barre syndrome. In 2011 she was readmitted with severe abdominal pain, diarrhea, volatile psychotic symptoms and seizures, following a short period of excessive alcohol consumption. During admission she developed progressive weakness in the upper arms, shooting pains in the limbs and a feeling of tightness. Impaired abdominal breathing was suspected. Again, Guillain-Barré syndrome was considered, but additional studies did not support this diagnosis. Because of the recurrent character of symptomatology following alcohol abuse, acute (intermittent) porphyria was considered diagnostically. The dark-colored urine indeed contained significantly increased delta-aminolevulinic-acid and porphobilinogen concentrations. Additional (genetic) diagnosis follows.
A recurrent disease course with severe gastrointestinal, neurological and psychiatric symptoms, following alcoholabuse, is suspect for AIP.
Email your librarian or administrator to recommend adding this to your organisation's collection.