Transient erythroporphyria of infancy

Transient erythroporphyria of infancy is a rare metabolic disorder that affects the production of heme, a component of hemoglobin. It is characterized by a temporary increase in the production of porphyrins, which are precursors to heme. This disorder is most commonly diagnosed in infants, but can also occur in adults.

Symptoms

The symptoms of transient erythroporphyria of infancy can vary greatly from person to person. Some individuals may experience mild symptoms, while others may have severe symptoms. Common symptoms include:

• Jaundice: This is a yellowing of the skin and eyes that is caused by a buildup of bilirubin, a byproduct of the breakdown of red blood cells.
• Anemia: This is a condition in which the body does not have enough healthy red blood cells to carry adequate oxygen to the body's tissues.
• Photosensitivity: This is a condition in which the skin becomes extremely sensitive to sunlight and other forms of ultraviolet light.

Causes

Transient erythroporphyria of infancy is caused by a temporary increase in the production of porphyrins. This increase is usually triggered by an infection or illness. The exact cause of this increase is not known, but it is thought to be related to the body's response to stress.

Diagnosis

The diagnosis of transient erythroporphyria of infancy is usually made based on the presence of characteristic symptoms and a history of recent illness or infection. Laboratory tests can also be used to measure the levels of porphyrins in the blood and urine.

Treatment

The treatment of transient erythroporphyria of infancy is primarily supportive. This may include measures to manage symptoms, such as avoiding sunlight and treating anemia. In some cases, medication may be used to reduce the production of porphyrins.

Prognosis

The prognosis for individuals with transient erythroporphyria of infancy is generally good. Most individuals experience a complete resolution of symptoms once the triggering illness or infection has been treated.

See also

• Erythropoietic protoporphyria
• Porphyria cutanea tarda
• Acute intermittent porphyria

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