Web: | mayocliniclabs.com |
---|---|
Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
An equivalent option to urine for first-line test for evaluation of a suspected acute porphyria
Monitoring patients undergoing treatment for an acute intermittent porphyria or other acute porphyria
Plasma porphobilinogen (PBG) and aminolevulinic acid (ALA) are elevated during the symptomatic phase of the acute porphyrias: acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria
An isolated elevation of ALA may be due to the very rare aminolevulinic acid dehydratase deficiency porphyria (ADP) or more commonly, a secondary inhibition of ALA.
This test can be used as part of the diagnostic assessment and monitoring of patients with acute intermittent porphyria (AIP) and other acute porphyrias.
Results are most informative when the specimen is obtained while the patient is having symptoms.
Additional testing must be performed to distinguish among the acute porphyrias.
When a urine specimen cannot be obtained during a symptomatic episode, this test provides an alternative specimen collection for the evaluation of a suspected acute porphyria.
The following algorithms are available in Special Instructions:
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)