Acute hepatic porphyrias. [PDF]
Porto Biomed JAbstract Introduction: Porphyrias are rare genetic disorders caused by heme biosynthesis pathway enzyme mutations, leading to porphyrin precursors build up in various tissues and diverse symptoms. This review centers on acute hepatic porphyrias (AHP).
Marques I, Marcos P.
europepmc +5 more sources
Kidney Involvement in Acute Hepatic Porphyrias: Pathophysiology and Diagnostic Implications [PDF]
Diagnostics, 2021 Porphyrias are a group of rare disorders originating from an enzyme dysfunction in the pathway of heme biosynthesis. Depending on the specific enzyme involved, porphyrias manifest under drastically different clinical pictures.
Andrea Ricci +4 more
doaj +2 more sources
Psychological Aspect and Quality of Life in Porphyrias: A Review
Diagnostics, 2022 The World Health Organization (WHO) describes “health” as a state of physical, mental, and social well-being and not merely the absence of disease or infirmity.
Granata Francesca +4 more
doaj +2 more sources
The Queen and the Dark Twin: Heme, Protoporphyrin IX, and State Transitions in Liver Metabolism [PDF]
MoleculesHeme metabolism in the liver has traditionally been described as a linear pathway that supports oxygen utilization, redox balance, and detoxification. Here, we synthesize recent evidence and propose a framework in which heme functions as a system-level ...
Swamy R. Adapa, Rays H. Y. Jiang
doaj +2 more sources
Characterizing hepatic porphyria: Insights from a quaternary care hospital in Bogotá, Colombia (2013–2023) [PDF]
Journal of International Medical ResearchIntroduction Acute hepatic porphyrias are rare, life-threatening genetic disorders that impair heme biosynthesis, often presenting with nonspecific symptoms that lead to misdiagnosis.
María C Martínez-Ávila +3 more
doaj +2 more sources
Acute hepatic porphyria masquerading as familial Mediterranean fever: results of a cross-sectional porphobilinogen screening [PDF]
Orphanet Journal of Rare DiseasesBackground Acute hepatic porphyria (AHP) is a heme metabolism disorder characterized by acute abdominal pain episodes, with diagnostic delays and misdiagnosis due to heterogeneous presentations and symptom overlap with other diseases. Timely diagnosis is
Gulustan Musayeva +11 more
doaj +2 more sources
Acute hepatic porphyrias for the neurologist: current concepts and perspectives [PDF]
Arquivos de Neuro-Psiquiatria, 2021 Background: Acute hepatic porphyrias represent an expanding group of complex inherited metabolic disorders due to inborn errors of metabolism involving heme biosynthesis. Objective: We aimed to review the main clinical and therapeutic aspects associated
Paulo Victor Sgobbi de Souza +5 more
doaj +1 more source
The acute hepatic porphyrias [PDF]
Translational Gastroenterology and Hepatology, 2021 The acute hepatic porphyrias (AHP) are a group of four inherited diseases of heme biosynthesis. They present with similar severe, episodic, acute neurovisceral symptoms due to abnormally elevated levels of porphyrin precursors delta-aminolevulinic acid (ALA).
openaire +2 more sources
Portuguese Consensus on Acute Porphyrias: Diagnosis, Treatment, Monitoring and Patient Referral
Acta Médica Portuguesa, 2023 Acute porphyrias are a group of rare genetic metabolic disorders, caused by a defect in one of the enzymes involved in the heme biosynthesis, which results in an abnormally high accumulation of toxic intermediates.
Luís Brito Avô +10 more
doaj +1 more source
Implanted Progestin Causing Pain and Psychiatric Disturbances in Porphyria Attack: A Case Report
Clinical Practice and Cases in Emergency Medicine, 2023 Introduction: Acute hepatic porphyrias (AHP) are a rare group of inherited disorders caused by abnormal functioning of the heme synthesis pathway. Patients often present with diffuse abdominal pain, neurologic dysfunction, and hyponatremia.
Ryan K. Misek, Massimo F. Riitano
doaj +1 more source