ERYTHROHEPATIC PORPHYRIA Meaning and
Definition
-
Erythrohepatic Porphyria is a rare, inherited metabolic disorder that affects the production of heme, which is an essential component of hemoglobin in red blood cells. It is classified as a type of porphyria, a group of conditions characterized by the abnormal accumulation and excretion of porphyrins in the body.
In this specific form of porphyria, there is a deficiency of the enzyme uroporphyrinogen decarboxylase (UROD), which is responsible for the conversion of uroporphyrinogen into coproporphyrinogen during heme synthesis. As a result, there is an accumulation of uroporphyrinogen, a precursor molecule in the pathway, causing it to be excreted in urine and other body fluids.
The buildup of uroporphyrinogen can lead to a wide range of symptoms. Individuals with Erythrohepatic Porphyria may experience photosensitivity, which refers to an increased sensitivity to sunlight that can cause severe skin blistering and scarring. Other common symptoms include abdominal pain, fatigue, anemia, and dark urine.
Diagnosis of Erythrohepatic Porphyria is often made through a combination of clinical symptoms, biochemical testing, and genetic analysis to confirm the presence of underlying mutations in the UROD gene. Treatment primarily focuses on managing symptoms and preventing complications, such as avoiding sunlight exposure, using protective clothing, and using sunscreen to protect the skin.
In summary, Erythrohepatic Porphyria is a rare genetic disorder characterized by a deficiency in the enzyme UROD, leading to the accumulation and excretion of uroporphyrinogens. It can cause a variety of symptoms, particularly photosensitivity, and requires comprehensive
Common Misspellings for ERYTHROHEPATIC PORPHYRIA
- wrythrohepatic porphyria
- srythrohepatic porphyria
- drythrohepatic porphyria
- rrythrohepatic porphyria
- 4rythrohepatic porphyria
- 3rythrohepatic porphyria
- eeythrohepatic porphyria
- edythrohepatic porphyria
- efythrohepatic porphyria
- etythrohepatic porphyria
- e5ythrohepatic porphyria
- e4ythrohepatic porphyria
- ertthrohepatic porphyria
- ergthrohepatic porphyria
- erhthrohepatic porphyria
- eruthrohepatic porphyria
- er7throhepatic porphyria
- er6throhepatic porphyria
- eryrhrohepatic porphyria
- eryfhrohepatic porphyria
Etymology of ERYTHROHEPATIC PORPHYRIA
The word "erythrohepatic porphyria" is a medical term that combines elements from Greek and Latin etymology.
1. Erythro-: Derived from the Greek word "erythros" (ἐρυθρός), which means "red". It refers to the characteristic red color of certain body tissues affected by the condition.
2. Hepatic: Derived from the Latin word "hepar", meaning "liver". This term indicates the involvement of the liver in the condition.
3. Porphyria: The word "porphyria" originates from the Greek term "porphura" (πορφύρα), meaning "purple". It refers to a group of rare genetic disorders that affect the production of heme, a key component in red blood cells.
