1. Skip to Menu
  2. Skip to Content
  3. Skip to Footer

Books

Available from ClinLab Navigator: Essentials of Transfusion Medicine, a convenient and comp...

Books
  • Books

    Books

  • Brand NEW APP - Lab Test Navigator: 800+ Lab Tests for iPhone

    Brand NEW APP - Lab Test Navigator: 800+ Lab Tests for iPhone

  • Brand NEW App - Lab Test Navigator: 800+ Lab Tests for iPad

    Brand NEW App - Lab Test Navigator: 800+ Lab Tests for iPad

Previous
Next

Uroporphyrinogen Decarboxylase

Porphyria cutanea tarda (PCT) is the most common porphyria resulting from a partial deficiency of hepatocyte and/or erythrocyte uroporphyrinogen decarboxylase. PCT is classified into 3 subtypes. Type I is the most common subtype. It occurs sporadically after exposure to precipitating factors such as alcohol. Patients exhibit normal enzyme activity in erythrocytes but decreased hepatic activity. Type II PCT is inherited as an autosomal dominant disorder and has moderately decreased enzyme activity in both erythrocytes and hepatocytes. Type III is a rare familial form of PCT in which patients have normal erythrocyte uroporphyrinogen decarboxylase activity in erythrocytes and decreased hepatic activity. Type III PCT is distinguished from type I by the history of other affected family members.

Hepatoerythropoietic porphyria (HEP) is a rare autosomal recessive form of porphyria that typically presents in early childhood. Patients have a severe deficiency of uroporphyrinogen decarboxylase, with activity levels 10% of normal in both hepatocytes and erythrocytes.

PCT and HEP result in accumulation of uroporphyrin in skin, subcutaneous tissues, and liver. Patients ususally present with cutaneous photosensitivity and scarring on sun-exposed surfaces. Patients also have elevated liver enzymes and an increased risk of developing cirrhosis.

Specimen requirement is a green or lavender top tube of whole blood. Testing is performed on saline washed red blood cells. See porphyrins for a list of the preferred tests for each type of porphyria. 

Updated Articles

Thiamine

Thiamine (Vitamin B1) deficiency causes Wernicke's encephalopathy, which is characterized by the classic triad of mental confusion, oculomotor dysfunction, and gait ataxia. Punctate hemorrhages around the third and fourth ventricles are…

New Articles

Thiamine

Thiamine (Vitamin B1) deficiency causes Wernicke's encephalopathy, which is characterized by the classic triad of mental confusion, oculomotor dysfunction, and gait ataxia. Punctate hemorrhages around the third and fourth ventricles are…

Blog

Metabolic Syndrome

The metabolic syndrome is defined as the co-occurrence of metabolic risk factors for both type 2 diabetes and cardiovascular disease. These risk factors include abdominal obesity, hyperglycemia, dyslipidemia, and hypertension. All of them are…

Stay Informed

Amazon Book

Our Sponsors

Login Form

Lectures

Cases That Kept Me Up At Night: Case #1

Case #1 is an overview of transfusion reactions and a discussion of a neonate with both NAIT and Rh HDN.

View More Lectures

Mobile Applications

iPad mini Horz Vert 300w

Get it for: iPhoneiPad

ClinLab Navigator Information

McAfee SECURE sites help keep you safe from identity theft, credit card fraud, spyware, spam, viruses and online scams
© 2015 ClinLab Navigator, LLC.