ALAD Deficiency Porphyria (ADP)

ALAD Porphyria (ADP) is a very rare genetic metabolic disease characterized by almost complete deficiency of the enzyme delta-aminolevulinic acid (ALA) dehydratase. In ADP, the gene responsible is ALAD which produces the enzyme aminolevulinic acid dehydratase. Deficiency of this enzyme leads to the accumulation of the toxic porphyrin precursor ALA, which can potentially result in a variety of symptoms. Symptoms vary from one person to another, but usually come from the neurological and gastrointestinal systems. This disease is inherited as an autosomal recessive disorder. ADP is more severe than the other acute Porphyrias and can present in childhood. Only ~10 cases have been reported worldwide and all reported cases have been males, in contrast to the other acute Porphyrias where more women are symptomatic.