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Emergency Medicine Clinics of North America, 1989
The importance of recognizing these rare metabolic disorders in the Emergency Department patient is discussed. The pathophysiologic mechanisms behind the neurologic and cutaneous manifestations of these disorders is reviewed; presentation and management of the acute hepatic porphyrias are described; and features of the erythropoietic porphyrias and ...
J R, Bloomer, H L, Bonkovsky
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The importance of recognizing these rare metabolic disorders in the Emergency Department patient is discussed. The pathophysiologic mechanisms behind the neurologic and cutaneous manifestations of these disorders is reviewed; presentation and management of the acute hepatic porphyrias are described; and features of the erythropoietic porphyrias and ...
J R, Bloomer, H L, Bonkovsky
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Current Treatment Options in Gastroenterology, 2000
The porphyrias are a diverse group of metabolic diseases. Major manifestations are episodic neurovisceral attacks of pain or other neurologic features, and/or dermatologic abnormalities. It is essential that a clear diagnosis be established prior to planning management.
, Bonkovsky, , Barnard
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The porphyrias are a diverse group of metabolic diseases. Major manifestations are episodic neurovisceral attacks of pain or other neurologic features, and/or dermatologic abnormalities. It is essential that a clear diagnosis be established prior to planning management.
, Bonkovsky, , Barnard
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Emergency Medicine Clinics of North America, 2005
The porphyrias are a group of disorders involving enzymatic defects in heme synthesis. The porphyrias classically manifest neuro-visceral or photocutaneous symptoms based on which enzyme in the heme metabolic pathway is deficient. Although rare, the porphyrias would most likely be encountered in the emergency department in patients presenting with ...
Teague A, Dombeck, Robert C, Satonik
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The porphyrias are a group of disorders involving enzymatic defects in heme synthesis. The porphyrias classically manifest neuro-visceral or photocutaneous symptoms based on which enzyme in the heme metabolic pathway is deficient. Although rare, the porphyrias would most likely be encountered in the emergency department in patients presenting with ...
Teague A, Dombeck, Robert C, Satonik
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Dermatologic Clinics, 1993
The vesiculobullous porphyrias are a group of blistering diseases with systemic as well as cutaneous manifestations ranging from mild to disabling, secondary to endogenous photosensitizing porphyrins. The characteristic patterns of porphyrin accumulation in erythrocytes, plasma, urine, and feces are invaluable for differentiating the vesiculobullous ...
T, Meola, H W, Lim
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The vesiculobullous porphyrias are a group of blistering diseases with systemic as well as cutaneous manifestations ranging from mild to disabling, secondary to endogenous photosensitizing porphyrins. The characteristic patterns of porphyrin accumulation in erythrocytes, plasma, urine, and feces are invaluable for differentiating the vesiculobullous ...
T, Meola, H W, Lim
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Blood Reviews, 1990
The porphyrias are a group of metabolic disorders arising from defects in the haem biosynthetic pathway. Most forms are inherited as Mendelian autosomal dominant characters, but some are recessive and others acquired. There is a linked group of diseases, which are not porphyrias, but have in common alterations of haem biosynthesis.
M R, Moore +3 more
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The porphyrias are a group of metabolic disorders arising from defects in the haem biosynthetic pathway. Most forms are inherited as Mendelian autosomal dominant characters, but some are recessive and others acquired. There is a linked group of diseases, which are not porphyrias, but have in common alterations of haem biosynthesis.
M R, Moore +3 more
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The Lancet, 2005
Seven different porphyrias form a group of inherited metabolic disorders, each resulting from a partial deficiency of a specific enzyme in the haem biosynthesis pathway. Clinically, the three most important entities are an acute porphyric attack and acute and chronic skin symptoms.
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Seven different porphyrias form a group of inherited metabolic disorders, each resulting from a partial deficiency of a specific enzyme in the haem biosynthesis pathway. Clinically, the three most important entities are an acute porphyric attack and acute and chronic skin symptoms.
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Journal of Clinical Gastroenterology, 1998
The porphyrias are a heterogeneous group of metabolic disorders caused by genetic defects of the enzymes involved in heme biosynthesis. The diseases are characterized by excessive accumulation and excretion of porphyrin or porphyrin precursors. The disorders have been classified as cutaneous, hepatic, or neuropsychiatric according to the organ system ...
Y V, Scarlett, D A, Brenner
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The porphyrias are a heterogeneous group of metabolic disorders caused by genetic defects of the enzymes involved in heme biosynthesis. The diseases are characterized by excessive accumulation and excretion of porphyrin or porphyrin precursors. The disorders have been classified as cutaneous, hepatic, or neuropsychiatric according to the organ system ...
Y V, Scarlett, D A, Brenner
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Porphyria and pseudo-porphyria in hemodialyzed patients
International Journal of Biochemistry, 1980Abstract A case of “bullous dermatosis of hemodialysis” which turns out to be a true hereditary PCT, is presented. The particularly serious and fast course of the cutaneous lesions might be due to the extremely high level of plasmatic porphyrins, which neither the residual renal function nor the hemodialysis are able to reduce.
TOPI GC +3 more
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Seminars in Liver Disease, 1998
Variegate porphyria is an autosomal dominant inherited trait resulting in decreased activity of protoporphyrinogen oxidase. It is characterized clinically by photosensitive skin disease and a propensity to acute neurovisceral crises. The disease is found worldwide but has an exceptionally high frequency in South Africa.
R E, Kirsch, P N, Meissner, R J, Hift
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Variegate porphyria is an autosomal dominant inherited trait resulting in decreased activity of protoporphyrinogen oxidase. It is characterized clinically by photosensitive skin disease and a propensity to acute neurovisceral crises. The disease is found worldwide but has an exceptionally high frequency in South Africa.
R E, Kirsch, P N, Meissner, R J, Hift
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The porphyrias: pathophysiology
Internal and Emergency Medicine, 2010Porphyrias are a group of inherited and acquired metabolic disorders due to a defect in haem biosynthesis. An enzymatic defect at different steps of haem synthesis leads to tissue accumulation and excessive excretion of porphyrins and/or their toxic precursors.
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