Acute intermittent porphyria
| Acute intermittent porphyria | |
|---|---|
 |
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| Porphobilinogen | |
| Classification and external resources | |
| Specialty | endocrinology |
| ICD-10 | E80.2 |
| ICD-9-CM | 277.1 |
| OMIM | 176000 |
| DiseasesDB | 171 |
| eMedicine | med/1880 |
| MeSH | D017118 |
| GeneReviews | |
Acute intermittent porphyria (AIP) is a genetic metabolic disorder affecting the production of heme, the oxygen-binding prosthetic group of hemoglobin. It is characterized by a deficiency of the enzyme porphobilinogen deaminase. Its inheritance is more commonly autosomal dominant, however autosomal recessive forms of this disorder have occurred. Its incidence is estimated to be between 5 and 10 in 100,000.
Signs and symptoms of AIP can be variable. Severe and poorly localized abdominal pain is a very common symptom (found in 95% of those affected by AIP). Urinary signs and symptoms such as painful urination, urinary retention, urinary incontinence, or dark urine have also been known to occur. Psychiatric signs and symptoms of AIP may manifest as anxiety, paranoia, irritability, delusions, hallucinations, confusion, and depression. Signs that suggest increased activity of the sympathetic nervous system may be evident including tachycardia, hypertension, palpitations, orthostatic hypotension, sweating, restlessness, and tremor. Other neurologic signs and symptoms of AIP include seizures, peripheral neuropathy, abnormal sensations, chest pain, leg pain, back pain or headache, and coma. Nausea, vomiting, constipation, and diarrhea can also occur. Proximal muscle weakness typically beginning in the arms is characteristic; there can be muscle pain, tingling, numbness, weakness or paralysis; muscle weakness seen in AIP can progress to include the muscles of breathing causing respiratory failure and can be fatal.
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