Ion-pair reversed-phase high-performance liquid chromatography together with fluorescence detection is useful in the analysis of urinary porphyrin carboxylic acids. The sensitive and quantitative detection facilitates the clinical diagnosis of porphyrias. The method described permits the detection of porphyrins down to 0.1 ng directly from urine without laborious sample pre-treatment. A linear response curve was obtained from 0.2 up to 200 ng for coproporphyrin I. The within-assay correlation coefficients ranged from 2.5 to 10.1%. Recovery experiments gave an accuracy of 89-109%. The rapidity and simplicity of the method allows its application to the routine analysis of urinary porphyrins in the clinical laboratory.
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http://dx.doi.org/10.1016/s0021-9673(01)91385-8 | DOI Listing |
Risk Manag Healthc Policy
January 2025
Department of Clinical Internal, Anesthesiological and Cardiovascular Sciences, Dermatology Clinic, Sapienza University of Rome, Rome, Italy.
Background: In a recent prospective, multicenter, two-arm randomized controlled trial (RCT), we demonstrated that adjunctive reflectance confocal microscopy (RCM) in routine clinical practice provides clinical benefits, including safe melanoma detection and a 43.3% reduction in the number needed to excise (NNE).
Methods: A cost-benefit analysis was conducted based on NNEs for standard care (5.
Mol Genet Metab Rep
March 2025
Alnylam Pharmaceuticals, Maidenhead, UK.
Background: Acute hepatic porphyria (AHP) is characterized by debilitating and potentially life-threatening neurovisceral attacks, possible chronic symptoms, and long-term complications. In a phase 1/2 open-label extension (OLE) study and the phase 3 ENVISION study, givosiran led to sustained improvement in annualized attack rate and quality of life (QOL) measures. To capture the patient experience of symptoms and impacts of AHP, and any changes experienced during treatment with givosiran, qualitative interviews were conducted with study participants.
View Article and Find Full Text PDFCureus
November 2024
Pediatrics, West Virginia School of Osteopathic Medicine, Lewisburg, USA.
Porphyria is a rare and often underdiagnosed metabolic disorder that leads to abdominal pain, pelvic pain, changes in neurological states, and digestive issues due to a buildup of porphyrins in the body. Diagnosis can be especially difficult in young women, where symptoms of porphyria often overlap with gynecological conditions. We present a case of a 37-year-old female patient who was experiencing persistent lower abdominal and pelvic pain, brain fog and confusion, and a rash after long sun exposure.
View Article and Find Full Text PDFCureus
November 2024
Internal Medicine-Pediatrics, University of California Los Angeles, Los Angeles, USA.
Acute intermittent porphyria (AIP) is a rare inherited metabolic disorder caused by decreased activity of the enzyme porphobilinogen deaminase in the heme synthesis pathway. This leads to the accumulation of toxic porphyrin precursors, such as porphobilinogen and δ-aminolevulinic acid. Clinical manifestations typically include episodic bouts of severe neurovisceral pain and autonomic dysfunction.
View Article and Find Full Text PDFMol Genet Metab Rep
December 2024
Department of Neurology, Chang Gung Memorial Hospital Linkou Medical Center and College of Medicine, Chang Gung University, Taoyuan, Taiwan.
Introduction: For patients with acute intermittent porphyria (AIP), a true attack could be difficult to distinguish from chronic abdominal pain. This study focused on treatment responses from two patients with confirmed elevated biochemical data (delta-aminolevulinic acid (ALA), porphobilinogen (PBG)) and clinical evidence for acute attacks before starting givosiran.
Methods: Data from patients who participated in the phase III givosiran trial in Taiwan between May 2018 and May 2021 were reviewed.
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