Diseases

Alad Porphyria

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Alad porphyria is a rare porphyric disorder, with five documented compound heterozygous patients, and it is caused by a profound lack of porphobilinogen synthase (pbgs) activity. Pbgs, also called “aminolevulinate dehydratase,” is encoded by the alad gene and catalyzes the second step in the biosynthesis of heme.

SYMPTOMS

Individuals with alad porphyria may have bouts or “attacks” when symptoms are intense, which are referred to as neurovisceral or acute attacks. An attack may last for several weeks. During an attack, affected individuals may experience severeabdominal cramping or pain accompanied by vomiting and constipation.