Diagnosing acute hepatic porphyria (AIP) involves measuring porphobilinogen (PBG) levels in urine during symptomatic episodes, combined with genetic testing to identify HMBS gene alterations that ...

Acute Intermittent Porphyria (AIP) is a rare genetic disorder that has gained increasing attention in recent years. It stems from a deficiency in the enzyme porphobilinogen deaminase, leading to an ...

Acute intermittent porphyria (AIP) is an inborn error of metabolism inherited via a fully identified autosomal dominant gene. The porphyrias, a group of diseases ...

Acute hepatic porphyria (AHP) is a group of rare genetic disorders that affect the liver’s ability to produce heme, a vital component of blood, and can manifest with a variety of symptoms often ...

Study results published in PLoS One strongly suggest machine learning can be an effective approach to identify patients who should receive a diagnostic biochemical test to screen for acute hepatic ...

Up-regulation of hepatic delta-aminolevulinic acid synthase 1 (ALAS1), with resultant accumulation of delta-aminolevulinic acid (ALA) and porphobilinogen, is central to the pathogenesis of acute ...

Use of the RNA inhibitor givosiran was shown to reduce expression of delta-aminolevulinic acid synthase 1, in turn reducing the severity of acute attacks and chronic symptoms for patients with severe ...

Alnylam’s givosiran met its primary endpoint in a phase 3 study in the rare liver disease acute hepatic porphyria. In addition to reducing the rate of porphyria attacks over placebo, the ...

Please provide your email address to receive an email when new articles are posted on . Clinicians are hoping an RNA interference therapeutic targeting aminolevulinic acid synthase 1, known as ...