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The Porphyrias
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The porphyrias are metabolic diseases caused by altered activities of enzymes in the heme biosynthetic pathway. Signs and symptoms of porphyria result from overproduction and accumulation of pathway intermediates. Recognizing the different types of porphyrias can be challenging due to similarities in presentation but etiology, pathogenesis, methods for diagnosis and treatment for each are distinct. In this overview of the porphyrias, we describe the eight enzymes in the heme biosynthetic pathway associated with each type of porphyria. We classify these diseases by their erythropoietic or hepatic origin and their cutaneous or neurovisceral manifestations. The etiology and pathophysiology specific to the type of porphyria is linked to the specific enzyme in the heme biosynthetic pathway. Emphasis is placed on specific clinical features, relevant diagnostic evaluation and appropriate therapy for each porphyria pertinent to treating physicians and clinicians.
Title: The Porphyrias
Description:
The porphyrias are metabolic diseases caused by altered activities of enzymes in the heme biosynthetic pathway.
Signs and symptoms of porphyria result from overproduction and accumulation of pathway intermediates.
Recognizing the different types of porphyrias can be challenging due to similarities in presentation but etiology, pathogenesis, methods for diagnosis and treatment for each are distinct.
In this overview of the porphyrias, we describe the eight enzymes in the heme biosynthetic pathway associated with each type of porphyria.
We classify these diseases by their erythropoietic or hepatic origin and their cutaneous or neurovisceral manifestations.
The etiology and pathophysiology specific to the type of porphyria is linked to the specific enzyme in the heme biosynthetic pathway.
Emphasis is placed on specific clinical features, relevant diagnostic evaluation and appropriate therapy for each porphyria pertinent to treating physicians and clinicians.
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The porphyrias
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Abstract
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Molecular mechanisms of dominant expression in porphyria
Molecular mechanisms of dominant expression in porphyria
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Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network
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The porphyrias
The porphyrias
Abstract
The porphyrias are metabolic diseases resulting from deficiency, or in one disease, an increase in the activity, of specific enzymes in the haem biosyntheti...
Psychometric Properties of the Patient Reported Outcomes Measurement Information System (PROMIS) Scales in Acute Intermittent Porphyria Patients
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Abstract
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Recovery from a variegate porphyria by a liver transplantation
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The porphyrias are a group of inherited or acquired enzymatic defects of heme biosynthesis. Each type of porphyria has a characteristic pattern of overproduction and accumulation o...
Porphyria: A metabolic disorder
Porphyria: A metabolic disorder
Porphyrias are heterogenous group of metabolic disorders arising from defects in the heme biosynthetic pathway, each being characterized by a specific partial enzyme deficiency. Al...
Unexpected presentation of acute porphyria
Unexpected presentation of acute porphyria
Acute porphyrias are rarely reported in Southeast Asia. They may be underdiagnosed due to their clinical mimicry and lack of awareness among physicians. There is a common cognitive...