Molecular Characterization of Homozygous Variegate Porphyria [PDF]
Human Molecular Genetics, 1998 Variegate porphyria (VP) is a low penetrance, autosomal dominant disorder that results from partial deficiency of protoporphyrinogen oxidase (PPOX) activity caused by mutation in the PPOX gene. The rare homozygous variant of VP is characterized by severe PPOX deficiency, onset of photosensitization by porphyrins in early childhood, skeletal ...
A G, Roberts +9 more
exaly +6 more sources
Neurodevelopmental retardation and neurological symptoms in homozygous variegate porphyria: two new cases and a literature review [PDF]
Orphanet Journal of Rare DiseasesBackground Genetic porphyrias, namely in their homozygous form, may cause a neurodevelopmental disorder which may even be the clinically dominant feature. But few cases have been described so far.
Nadja Kaiser +4 more
doaj +2 more sources
Acute porphyrias – A neurological perspective [PDF]
Brain and Behavior, 2021 Acute hepatic porphyrias (AHP) can cause severe neurological symptoms involving the central, autonomic, and peripheral nervous system. Due to their relative rarity and their chameleon‐like presentation, delayed diagnosis and misdiagnosis are common. AHPs
Lea M. Gerischer +5 more
doaj +2 more sources
Clinical, biochemical, and genetic characterization of acute hepatic porphyrias in a cohort of Argentine patients [PDF]
Molecular Genetics & Genomic Medicine, 2021 Background Acute Hepatic Porphyrias (AHPs) are characterized by an acute neuroabdominal syndrome including both neuropsychiatric symptoms and neurodegenerative changes.
María del Carmen Martinez +5 more
doaj +2 more sources
Butafenacil: A positive control for identifying anemia- and variegate porphyria-inducing chemicals [PDF]
Toxicology Reports, 2015 Butafenacil is an herbicide that inhibits protoporphyrinogen oxidase (PPOX), an enzyme that catalyzes oxidation of protoporphyrinogen IX to protoporphyrin IX during chlorophyll and heme biosynthesis.
Jessica K. Leet +2 more
doaj +2 more sources
Safe use of perampanel in a carrier of variegate porphyria [PDF]
, 2016 Objectives. Treatment of chronic epilepsy in acute porphyrias may be difficult because many antiepileptic drugs can cause activation of clinically-latent conditions. Methods.
Balestrini, S +3 more
core +3 more sources
A case report on variegate porphyria after etonogestrel placement [PDF]
JAAD Case Reports, 2022 Arianna Strome, BS +3 more
doaj +2 more sources
Acute Variegate Porphyria in a Professional Bodybuilder after Starting a High-protein Diet and Treatment with Testosterone [PDF]
Acta Dermato-Venereologica, 2021 Christiane S. Cussigh +4 more
doaj +2 more sources
Challenges in diagnosis and management of acute hepatic porphyrias: from an uncommon pediatric onset to innovative treatments and perspectives [PDF]
Orphanet Journal of Rare Diseases, 2022 Acute hepatic porphyrias (AHPs) are a family of four rare genetic diseases resulting from a deficiency in one of the enzymes involved in heme biosynthesis.
Matteo Marcacci +5 more
doaj +2 more sources
Sporadic Porphyria Cutanea Tarda, Cutaneous Sarcoidosis, and Compound Heterozygosity of HFE Mutations Cys282Tyr and His63Asp-A Case Report. [PDF]
EJHaemABSTRACT Porphyria cutanea tarda (PCT) is caused by inherited or acquired defects of uroporphyrinogen decarboxylase (UROD) in the heme biosynthetic pathway. Altered iron homeostasis via hemochromatosis gene (HFE) mutations is one of many susceptibility factors associated with the sporadic form of PCT.
Kim JL, Crawford R, Lano IM, Merkeley H.
europepmc +2 more sources