Identification of mutations in the <i>uroporphyrinogen III synthase</i> gene in a Thai girl patient with congenital erythropoietic porphyria

Glomglao, Waraporn; Treesucon, Ajjima; Roothumnong, Ekkapong; Thongnoppakhun, Wanna; Siraprapapat, Preeyanun; Suwanthol, L.; Sanpakit, Kleebsabai; Tanphaichitr, Voravarn S.

doi:10.1111/ijlh.12282

Cited by 2 publications

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“…These two nonphysiological metabolites cannot be metabolized by the latter downstream enzymes in the pathway, and instead collect and become pathogenic in various susceptible organs. [45][46][47][48] Specific sites of accumulation are the bone marrow, plasma, red blood cells, urine, teeth, and bones. Once in these organs, the metabolites act as photosensitizer and promote cytotoxic effects.…”

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confidence: 99%

“…10 Catalytic deficiencies or impaired functioning of the UROS enzyme produces congenital erythropoietic porphyria (CEP; 263700), a rare, inherited metabolic disease. [45][46][47] Also known as Gunther's disease, over 200 cases of CEP have been reported worldwide. The disease is a recessive genetic disorder that arises because in the absence of UROS, there is a non-enzymatic conversion of hydroxymethylbilane to uroporphyrinogen I and coproporphyrinogen I.…”

Section: )mentioning

confidence: 99%

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The Hepatic Porphyrias: Revealing the Complexities of a Rare Disease

Balogun,

Nejak-Bowen

2023

Semin Liver Dis

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The porphyrias are a group of metabolic disorders that are caused by defects in heme biosynthesis pathway enzymes. The result is accumulation of heme precursors, which can cause neurovisceral and/or cutaneous photosensitivity. Liver is commonly either a source or target of excess porphyrins, and porphyria-associated hepatic dysfunction ranges from minor abnormalities to liver failure. In this review, the first of a three-part series, we describe the defects commonly found in each of the eight enzymes involved in heme biosynthesis. We also discuss the pathophysiology of the hepatic porphyrias in detail, covering epidemiology, histopathology, diagnosis, and complications. Cellular consequences of porphyrin accumulation are discussed, with an emphasis on oxidative stress, protein aggregation, hepatocellular cancer, and endothelial dysfunction. Finally, we review current therapies to treat and manage symptoms of hepatic porphyria.

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confidence: 99%