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Erythropoietic protoporphyria (or commonly called EPP) is a form of porphyria, which varies in severity and can be very painful. It arises from a deficiency in the enzyme ferrochelatase , leading to abnormally high levels of protoporphyrin in the red blood cells (erythrocytes) , plasma, skin, and liver . [ 2 ]
Afamelanotide, sold under the brand name Scenesse, is a medication used to prevent phototoxicity and to reduce pain from light exposure for people with erythropoietic protoporphyria. [1] [2] [4] It is a melanocortin 1 receptor (MC 1 receptor) agonist [1] and a synthetic peptide and analogue of α-melanocyte stimulating hormone. [1]
X-linked sideroblastic anemia or "X-linked dominant erythropoietic protoporphyria", associated with ALAS2 (aminolevulinic acid synthase), has also been described.X-linked dominant erythropoietic protoporphyria (XDEPP) is caused by a gain of function mutation in the ALAS2 (5-aminolevulinate synthase) gene; that gene encodes the very first enzyme in the heme biosynthetic pathway.
Porphyria / p ɔːr ˈ f ɪr i ə / is a group of disorders in which substances called porphyrins build up in the body, adversely affecting the skin or nervous system. [1] The types that affect the nervous system are also known as acute porphyria, as symptoms are rapid in onset and short in duration. [1]
As of 2024, it is under development for the management of erythropoietic protoporphyria. [3] Bitopertin is a glycine transporter 1 (GlyT1) inhibitor that increases levels of the neurotransmitter glycine by inhibiting its reuptake from the synaptic cleft. Glycine acts as a required co-agonist along with glutamate at N-methyl-D-aspartate (NMDA ...
The medication, along with methadone treatment and needle exchange initiatives, also helped cut in half the HIV rate among intravenous drug users. By 2004, almost all of Australia’s heroin addicts in treatment were on methadone or buprenorphine, and the country had reduced its overdose deaths.
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Nausea can be severe; it may respond to phenothiazine drugs but is sometimes intractable. Hot water baths or showers may lessen nausea temporarily, but can present a risk of burns or falls. [27] Seizures often accompany this disease. Most seizure medications exacerbate this condition due to their induction of cytochrome P450.
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