Childhood porphyrias.

Abstract

Childhood porphyrias are an uncommon group of metabolic disorders that result from inherited deficiencies of enzymes involved in the heme biosynthetic pathway. Although childhood porphyrias have been reported globally, their exact incidence is unknown. The inheritance patterns of these disorders are complex. Phenotypic variability is common among individual disease states and results partly from the presence of genetic heterogeneity. Childhood porphyrias typically present with photosensitivity and unique skin lesions. Therapy is limited and consists mostly of symptomatic and preventive measures. Although the disease course is variable, mortality from these disorders is rare.