A previously identified mutation in the PPOX gene in a Moroccan Jewish population may cause variegate porphyria by impairing the correct 3D folding of the PPOX enzyme. Incorrectly folded, the activity of the mutated enzyme was severely impaired. The study, “Molecular characterization of a novel His333Arg variant of…
The case of a man with porphyria cutanea tarda (PCT) that damaged his eyes — a rare manifestation of the disease that progressed to the point that it threatened his eyesight — was described in a report from India. The report, “Sight-threatening progressive corneo-scleral involvement in porphyria…
Unusual cases of congenital erythropoietic porphyria (CEP) occurring before birth may lead to miscarriage, as highlighted in a recent study describing the cases of two siblings. The amniotic fluid — the liquid that surrounds the developing fetus in the womb — in both pregnancies was not dark as expected…
Abnormal fatty lesions in the liver, detected via ultrasound, may be critical for diagnosing some cases of porphyria cutanea tarda (PCT), the most common form of porphyria, according to a study. Its authors suggest that clinicians should use urinary tests to check for PCT in patients with unexplained…
A child with erythropoietic protoporphyria (EPP) — marked by skin hypersensitivity to sunlight and sometimes artificial light — underwent cardiac surgery with minimal issues due to a blood exchange protocol that prevented photosensitivity effects and potential hemolysis, or the destruction of red blood cells, according to a recent case…
A young woman with acute intermittent porphyria (AIP) experienced neuropathic pain — a type of pain caused by nerve damage — after receiving a liver transplant, according to a report from investigators in Brazil. For the first five months following the procedure, the woman experienced no symptoms, but then…
Women with acute intermittent porphyria (AIP) receiving once-weekly preventive treatment with heme arginate — given as an intravenous or into-the-vein infusion — had fewer and less severe attacks, a small study found. Indeed, these AIP patients saw a reduction in acute attacks by more than 80% with the use…
Alpha-lipoic acid, an insulin sensitizer, may help improve the breakdown and use of glucose, or blood sugar, in the liver of patients with acute intermittent porphyria (AIP), according to a recent cell-based study. The findings showed that alpha-lipoic acid is “attractive for the management of metabolic disorders, as it…
Acute intermittent porphyria (AIP) attacks can be stopped by regular peritoneal dialysis, a treatment that eliminates waste products by rinsing the inner abdomen, as reported in a case study. According to researchers, this study suggests that peritoneal dialysis may be used both as a preventive treatment and during AIP…
People with acute hepatic porphyria (AHP) tend to have higher-than-normal levels of markers for kidney injury, new research suggests. The findings were shared in a virtual poster, titled “Renal Injury Biomarkers Are Elevated in Acute Hepatic Porphyria,” presented at the American Society of Nephrology Kidney Week…
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