Aminolevulinate dehydratase deficiency porphyria
(ALA dehydratase porphyria or ALAD) is a condition that is part of a group of rare genetic disorders called the porphyrias (please also visit: porphyria.
) and is known to be the rarest among them. Porphyrias are caused by abnormalities in the chemical steps (which are controlled by proteins called enzymes) that lead to decreased heme production. Heme is the iron-containing portion of hemoglobin which carries oxygen throughout the body, thus it is essential to all the organs. Because there is an enzyme defect that reduces the amount of heme produced, other substances build up in the liver and are toxic. ALAD is a form of acute porphyria which means it typically comes on suddenly and lasts a short time (days to weeks). The disorder usually occurs in children. However, certain drugs can trigger acute porphyria including certain antibiotics and anesthetics. Symptoms include abdominal pain, nausea, seizures, vomiting, unusual nerve sensations, skin abnormalities, and mental fatigue. Other symptoms include skin manifestations such as burning, blistering and scarring of sun-exposed areas. ALAD can be diagnosed through a blood, urine, or stool test. Currently there is no known cure, but treatments are available to help with symptoms which include medication for nausea, seizures, and nerve pain. Injections may be available to some to help correct the levels of heme in the liver. ALAD is inherited or passed through families in an autosomal recessive manner. This means that two copies of the gene change (mutation) must be present in order to have ALAD. Talk to your doctor to see if you or your child has been diagnosed with this condition to find the right treatment options for you. A genetic counselor can be of assistance in discussing risks to other family members.