Transient erythroporphyria of infancy

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Transient erythroporphyria of infancy (pronunciation: tran-zee-uhnt er-ith-roh-por-fir-ee-uh ov in-fuhn-see) is a rare and temporary condition that affects newborns. It is characterized by an overproduction of porphyrins, which are chemicals that help form many important substances in the body, including hemoglobin, the protein in red blood cells that carries oxygen.

Etymology

The term "Transient erythroporphyria of infancy" is derived from the following roots: "Transient" (from Latin transiens - passing over), "erythro" (from Greek erythros - red), "porphyria" (from Greek porphyros - purple), and "infancy" (from Latin infantia - early childhood). The name of the condition reflects its temporary nature, its effect on red blood cells, the overproduction of porphyrins, and the age group it affects.

Symptoms

The symptoms of transient erythroporphyria of infancy include jaundice, anemia, and a distinctive red or brown color of the urine. The condition is usually diagnosed in the first few days of life and resolves by the age of 1 to 2 years.

Causes

Transient erythroporphyria of infancy is caused by a temporary dysfunction in the heme synthesis pathway, which leads to an overproduction of porphyrins. The exact cause of this dysfunction is not known, but it is believed to be related to the immaturity of the enzyme systems involved in heme synthesis.

Treatment

Treatment for transient erythroporphyria of infancy is supportive and includes managing the symptoms and monitoring the child's condition. In severe cases, blood transfusion may be necessary.

Related Terms

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