Friday, April 12, 2019

What is δ-Aminolevulinic Acid Dehydratase Porphyria (ADP)?

What is δ-Aminolevulinic Acid Dehydratase Porphyria (ADP)?

ADP is more severe than the other acute porphyrias and can present in childhood. It is an inherited genetic condition, but is extremely rare. Only ~10 cases have been reported worldwide and all of the reported cases have been males, in contrast to the other acute porphyrias where more women have symptoms. In ADP, the gene responsible is ALAD which produces the enzyme δ-aminolevulinic acid dehydratase. When this enzyme is working properly, porphyrins build up and can cause symptoms similar to those seen in AIP.

How is δ-Aminolevulinic Acid Dehydratase Porphyria diagnosed?

Biochemical testing means looking for “biomarkers” in the blood or urine. To diagnose ADP, measurements of porphobilinogen (PBG), aminolevulinic acid (ALA), and total porphyrins in the urine should be done. Also porphyrins in the blood should be measured. The level of PBG in the body can vary so the best time to take samples is during an acute attack (e.g. when someone is having abdominal pain, etc). Slight elevations in porphyrins are not diagnostic of ADP; the levels need to be very high.

What are treatments for δ-Aminolevulinic Acid Dehydratase Porphyria?

The treatments and preventive measures are the same as in AIP.

How is δ-Aminolevulinic Acid Dehydratase Porphyria Inherited?

ADP is an autosomal recessive condition. Autosomal means that the defect is not on the chromosomes that determine sex, and recessive means that both copies of the gene are mutated. The gene that causes ADP is called ALAD.

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What is δ-Aminolevulinic Acid Dehydratase Porphyria (ADP)?

What is δ-Aminolevulinic Acid Dehydratase Porphyria (ADP)? ADP is more severe than the other acute porphyrias and can present in childhoo...