title: Clinical, Biochemical and Molecular Characteristics of the Main Types of Porphyria.
abstract: Porphyrias are diverse disorders that arise from various inherited enzyme defects in the heme biosynthesis pathway, except for porphyria cutanea tarda (PCT), in which the enzyme deficiency in most cases is acquired. The biosynthetic blocks resulting from the defective enzymes are largely expressed either in the liver or bone marrow, the sites where the majority of heme is produced. Although the pathophysiologic mechanisms of the clinical manifestations of the porphyrias are not fully understood, two cardinal features prevail: skin photosensitivity and neurologic symptoms of intermittent autonomic neuropathy, acute neurovisceral attacks, and disorders of the nervous system. The primary diagnosis of the proband is based on biochemical testing, which is not always able to identify acute porphyrias, especially in asymptomatic family carriers when heme precursors and porphyrins excretion is normal, low-normal and high-reduced values of enzyme activity overlap, and hematological diseases responsible for abnormal blood cells distribution coexist. Molecular analysis of gene mutations responsible for each type of porphyria is the best diagnostic approach for symptomatic as well as presymptomatic gene carriers.
authors.affiliation: Department of Immunogenetics of the Institute of Haematology and Transfusion Medicine, Warszawa, Poland.|Department of Haemostasis and Metabolic Disorders of the Institute of Haematology and Transfusion Medicine, Warszawa, Poland.
authors.forename: Urszula
authors.initials: U
authors.lastname: Szlendak
authors.affiliation: Department of Haemostasis and Metabolic Disorders of the Institute of Haematology and Transfusion Medicine, Warszawa, Poland.
authors.forename: Ksenia
authors.initials: K
authors.lastname: Bykowska
authors.affiliation: Department of Haemostasis and Metabolic Disorders of the Institute of Haematology and Transfusion Medicine, Warszawa, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Lipniacka
mesh_terms: D000818:Animals; D004798:Enzymes / Q000235:genetics / Q000378:metabolism*; D015971:Gene Expression Regulation, Enzymologic; D020022:Genetic Predisposition to Disease; D006418:Heme / Q000096:biosynthesis*; D040941:Heredity; D006801:Humans; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011164:Porphyrias / Q000201:enzymology* / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D011379:Prognosis
chemical_list: D004798:Enzymes; D006418:Heme
keywords: acute hepatic porphyrias; erythropoietic porphyrias; porphyria cutanea tarda