The Porphyrias

Muschalek, Wiebke; Hermasch, Matthias A.; Poblete‐Gutiérrez, Pamela; Frank, Jorge

doi:10.1111/ddg.14743

Cited by 6 publications

(4 citation statements)

References 42 publications

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“…Upon admission, the patient received high-glucose-load therapy, cimetidine, and arginine heme to inhibit ALA synthase[ 2 ]. Simultaneously, cholestyramine and UDCA were administered to enhance bile excretion.…”

Section: Treatmentmentioning

confidence: 99%

“…Porphyria comprises a cluster of metabolic disorders arising from deficiencies in specific enzymes within the heme biosynthesis pathway[ 1 ]. This deficiency leads to elevated concentrations of porphyrins or their precursors, such as delta-aminolevulinic acid (δ-ALA) and porphobilinogen, culminating in their abnormal accumulation within tissues and subsequent cellular damage[ 2 ]. Porphyria is a relatively rare genetic disorder, with prevalence ranging from 0.5 to 10 per 100000 in different populations[ 3 , 4 ].…”

Section: Introductionmentioning

confidence: 99%

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Successful treatment of severe hepatic impairment in erythropoietic protoporphyria: A case report and review of literature

Zeng,

Chen,

Liu

et al. 2024

World J Hepatol

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BACKGROUND Erythropoietic protoporphyria (EPP) is a rare genetic disorder stemming from ferrochelatase gene mutations, which leads to abnormal accumulation of protoporphyrin IX primarily in erythrocytes, skin, bone marrow and liver. Although porphyria-related severe liver damage is rare, its consequences can be severe with limited treatment options. CASE SUMMARY This case study highlights a successful intervention for a 35-year-old male with EPP-related liver impairment, employing a combination of red blood cell (RBC) exchange and therapeutic plasma exchange (TPE). The patient experienced significant symptom relief and a decrease in bilirubin levels following multiple PE sessions and an RBC exchange. CONCLUSION The findings suggest that this combined approach holds promise for managing severe hepatic impairment in EPP.

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Section: Treatmentmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Successful treatment of severe hepatic impairment in erythropoietic protoporphyria: A case report and review of literature

Zeng,

Chen,

Liu

et al. 2024

World J Hepatol

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“…Disorders in heme biosynthesis leads to a group of diseases called porphyrias [ 1 , 2 , 3 ]. In particular, a decrease in porphobilinogen deaminase (PBG-D), the enzyme involved in the third step of heme biosynthesis, leads to acute intermittent porphyria (AIP) [ 4 , 5 , 6 ].…”

Section: Introductionmentioning

confidence: 99%

Xenobiotics Triggering Acute Intermittent Porphyria and Their Effect on Mouse Brain Respiratory Complexes

Zuccoli,

Martínez,

Vallecorsa

et al. 2024

JoX

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Heme enzyme dysfunction causes a group of diseases called porphyrias. Particularly, a decrease in porphobilinogen deaminase, involved in the third step of heme biosynthesis, leads to acute intermittent porphyria (AIP). Considering our previous works demonstrating the multiplicity of brain metabolisms affected by porphyrinogenic agents, this study aimed to elucidate whether they cause any alteration on the mitochondrial respiratory chain. The activities of respiratory chain complexes (I to IV) were measured in encephalon mitochondria of CF1 male mice receiving volatile anesthetics: isoflurane (2 mL/kg) and sevoflurane (1.5 mL/kg), ethanol (30%), allylisopropylacetamide (AIA) (350 mg/kg), and barbital (167 mg/kg). Moreover, they were compared versus animals with pathological levels of 5-aminolevulinic acid (ALA, 40 mg/kg). Complex I–III activity was induced by isoflurane and decreased by AIA, ethanol, and ALA. Complex II–III activity was increased by sevoflurane and decreased by isoflurane and AIA. Complex II activity was increased by sevoflurane and barbital and decreased by AIA, ethanol, and ALA. Complex IV activity was increased by barbital and ALA and decreased by sevoflurane. The damage to the respiratory chain by ALA could be reflecting the pathophysiological condition of patients with AIP. Better understanding the broad effect of porphyrinogenic drugs and the mechanisms acting on the onset of AIP is vital in translational medicine.

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“…They can be inherited as autosome-dominant, autosome-recessive, or X-linked mutations hitting a specific enzyme [1]. All porphyrias can be classified according to the localization of the greatest enzymatic dysfunction, the deficient enzyme, and whether they develop acute attacks or not [2]. Considering localization, porphyrias can be erythropoietic and hepatic.…”

Section: Introductionmentioning

confidence: 99%

Anesthetic implications in porphyrias

Randjelović¹,

Stojanović²,

Radeka³

et al. 2023

Front. Anesthesiol.

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The porphyrias are a group of disorders related to deficient heme biosynthesis, caused by malfunction of certain enzymes in the synthesis pathway. Erythropoietic porphyrias present with cutaneous symptoms and do not affect the nervous system. Hepatic porphyrias develop acute attacks with mild to severe neurovisceral symptoms, dramatic course, and rare, but possibly lethal outcomes. Anesthetic management of patients suffering from hepatic porphyria is challenging regarding the possibility of triggering or worsening the acute attack with medications that induce or maintain anesthesia. The medications are labeled as safe or unsafe according to laboratory experiments, clinical studies, case reports and experience. In this paper, we discuss underlying pathophysiology, presentation, therapy recommendations and anesthetic implications related to porphyrias.

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The Porphyrias

Cited by 6 publications

References 42 publications

Successful treatment of severe hepatic impairment in erythropoietic protoporphyria: A case report and review of literature

Successful treatment of severe hepatic impairment in erythropoietic protoporphyria: A case report and review of literature

Xenobiotics Triggering Acute Intermittent Porphyria and Their Effect on Mouse Brain Respiratory Complexes

Anesthetic implications in porphyrias

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