Aminolevulinic acid dehydratase deficiency porphyria
Aminolevulinic Acid Dehydratase Deficiency Porphyria
Aminolevulinic Acid Dehydratase Deficiency Porphyria (pronunciation: am-ee-no-lev-yoo-LIN-ik as-id de-hy-druh-tase de-fish-en-see por-fear-ee-uh), also known as ADP or ALAD Deficiency Porphyria, is a rare metabolic disorder that affects the production of heme, a vital substance for the body.
Etymology
The term originates from the enzyme aminolevulinic acid dehydratase (ALAD), which is deficient in this condition, and porphyria, a group of disorders characterized by the buildup of natural chemicals that produce porphyrin in your body.
Definition
ADP is a type of porphyria, a group of rare genetic disorders that affect the nervous system and skin. It is caused by a deficiency of the enzyme aminolevulinic acid dehydratase, which is essential for the normal production of heme in the body. This deficiency leads to the accumulation of certain chemicals, causing a variety of symptoms.
Symptoms
Symptoms of ADP can vary greatly among individuals. They may include abdominal pain, light sensitivity, neurological complications, and skin problems.
Causes
ADP is caused by mutations in the ALAD gene. These mutations lead to a deficiency of the ALAD enzyme, disrupting the heme production process.
Diagnosis
Diagnosis of ADP is based on a series of tests, including genetic testing, measurement of enzyme activity, and the presence of certain chemicals in the urine and blood.
Treatment
Treatment for ADP is focused on managing symptoms and preventing complications. This may include avoiding triggers, medication to control pain and other symptoms, and in some cases, liver transplantation.
Related Terms
External links
- Medical encyclopedia article on Aminolevulinic acid dehydratase deficiency porphyria
- Wikipedia's article - Aminolevulinic acid dehydratase deficiency porphyria
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