Related Experiment Video
Updated: Apr 3, 2026
15:32
Identification and Analysis of Mouse Erythroid Progenitors using the CD71/TER119 Flow-cytometric Assay
Published on: August 5, 2011
34.3K
Congenital erythropoietic porphyria
1Departmentof Dermatology, Heinrich Heine University, Düsseldorf, Germany.
Skin Pharmacology and Applied Skin Physiology
|May 27, 1999
Summary
Congenital erythropoietic porphyria (CEP) is a rare genetic disorder causing porphyrin buildup, leading to severe skin photosensitivity and organ damage. Early diagnosis and sunlight avoidance are crucial for managing this debilitating condition.
Area of Science:
- Biochemistry
- Genetics
- Dermatology
Background:
- Congenital erythropoietic porphyria (CEP) is an ultra-rare autosomal-recessive disorder.
- It stems from a homozygous defect in uroporphyrinogen III cosynthase, impacting porphyrin metabolism.
Observation:
- Elevated uroporphyrin I in cells, erythrocytes, urine, and feces.
- Patients exhibit severe phototoxic skin damage, ulcerations, and mutilations.
- Internal symptoms include splenomegaly, hemolytic anemia, and skeletal changes like osteolysis.
Findings:
- Up to 130 CEP cases have been documented globally.
- Treatments like splenectomy and erythrocyte transfusions offer partial benefits.
- Bone marrow and stem cell transplantation have been attempted in limited cases.
Implications:
- Sunlight avoidance remains the most effective management strategy.
- Understanding CEP pathogenesis is vital for developing targeted therapies.
- Further research is needed to improve treatment outcomes for this rare disease.
More Related Videos
Related Concept Videos
01:27Protein Import into the Peroxisomes
5.6K
Cells contain membrane-bound organelles called peroxisomes that oxidize organic molecules by transferring hydrogen atoms to oxygen, producing hydrogen peroxide. Peroxisomes enzymatically convert the released hydrogen peroxide into water and oxygen.
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
5.6K
01:14Erythropoiesis
6.8K
Red blood cells (RBCs) transport oxygen to all body tissues. These cells survive only for 120 days and then need to be replenished. Erythropoiesis is the process of RBC production. In healthy individuals, erythropoiesis ensures all tissues are amply supplied with oxygen. In addition, blood loss due to injury leads to a drop in the physiological oxygen level that will cause erythropoiesis. Any defect in erythropoiesis leads to several physiological disorders, including thalassemia, anemia,...
6.8K
01:14Erythropoiesis
4.1K
No description available
4.1K
01:22Lifecycle of Erythrocytes
6.0K
Erythrocytes, also known as red blood cells, constantly move through blood capillaries. As a result, they damage their plasma membrane due to the continuous friction. Typically, after 100 to 120 days, erythrocytes become rigid and fragile as they wear out. As they pass through small vessels in the spleen and liver, they can get trapped and break apart into fragments.
The resident phagocytic macrophages deal with these damaged cells by engulfing them and separating their globin and heme groups....
The resident phagocytic macrophages deal with these damaged cells by engulfing them and separating their globin and heme groups....
6.0K
01:27Disorders of Erythrocytes
2.8K
Disorders of erythrocytes, or red blood cells (RBCs), include a range of conditions affecting their number, shape, or function.
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
2.8K
01:20Inborn Errors of Metabolism
1.0K
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
1.0K