2021
DOI: 10.1590/0004-282x20200096
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Abstract: 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 with acute hepatic porphyrias. Methods: The authors provided a wide non-systematic review of current concepts and recently acquired knowledge about acute hepatic porphyrias. Results: Acute neurovisceral attacks are the most common and life-threatening presen… Show more

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Cited by 8 publications
(42 citation statements)
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“…An alternative hypothesis for chronic neurological impairment in HMBS ‐related disease is a chronic deficiency in neuronal heme that interrupts axonal transport and causes axonal degeneration (Lindberg et al, 1999). This may be relevant also to the polyneuropathy and progressive neurological disease associated with recessive ALAD mutations (Doss porphyria) (Doss et al, 2004; Souza et al, 2021). Mice with HMBS deficiency and normal ALA levels were shown to develop progressive neurological dysfunction, indicating the disease process was not mediated by elevated ALA (Lindberg et al, 1999).…”
Section: Discussionmentioning
confidence: 99%
“…An alternative hypothesis for chronic neurological impairment in HMBS ‐related disease is a chronic deficiency in neuronal heme that interrupts axonal transport and causes axonal degeneration (Lindberg et al, 1999). This may be relevant also to the polyneuropathy and progressive neurological disease associated with recessive ALAD mutations (Doss porphyria) (Doss et al, 2004; Souza et al, 2021). Mice with HMBS deficiency and normal ALA levels were shown to develop progressive neurological dysfunction, indicating the disease process was not mediated by elevated ALA (Lindberg et al, 1999).…”
Section: Discussionmentioning
confidence: 99%
“…Porphyrias (from the Greek porphyrus , purple) are a rare group of inherited or acquired metabolic disorders of the heme biosynthesis pathway, which has eight biochemical steps ( Figure 1 ) with abnormal production and accumulation of toxic intermediate metabolites, which enter in the blood circulation and are excreted into the urine or bile ( Bissell et al, 2017 ; Souza et al, 2021 ).…”
Section: Introductionmentioning
confidence: 99%
“…Heme group production occurs predominantly in erythroblasts from the bone marrow (almost 80% of total heme production) and liver (around 20% of total heme group) and plays a major role as cofactor of different iron-based hemeproteins, such as hemoglobin, hepatic cytochromes P450, myoglobin, mitochondrial respiratory chain cytochromes, some catalases and peroxidases, and microsomal cytochrome b5 ( Bissell et al, 2017 ; Wang et al, 2018 ; Phillips, 2019 ; Souza et al, 2021 ).…”
Section: Introductionmentioning
confidence: 99%
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