Ala Dehydratase Deficiency Porphyria

Excerpt

Porphyria is derived from the Greek word "porphyra," which signifies the purple-red color of urine due to the accumulation of porphyrins. Delta-aminolevulinic acid (ALA) dehydratase deficiency porphyria (ADP) is a type of rare acute porphyria involving the ALA dehydratase enzyme, which is the second enzyme in the heme synthesis pathway after ALA synthase. Heme is a fundamental component of blood.

ADP is an autosomal recessive disorder and is the rarest of the inherited porphyrias. The disease was identified first by M.Doss in Germany, and the disease is, therefore, also known as Doss porphyria. It is also called plumboporphyria because clinical findings of ADP mimics lead poisoning in biochemical and clinical findings due to the ability of lead to inhibit the ALA dehydratase enzyme. ADP is one of the four acute hepatic porphyrias and is characterized by variable extrahepatic gastrointestinal, neurological-psychiatric, and cardiovascular manifestations. It can also have a significant erythropoietic component that may cause cutaneous symptoms in early childhood and complicated by cholestatic liver cirrhosis and progressive hepatic failure.