04126 Fatigue in patients with porphyrias – first data from the German Porphyria Registry (PoReGer)

of the c.839G>A variant on the already hypomorphic c.724G>A allele.Additionally, we report the molecular characterization of the ALAD gene in five adult patients presenting clinical and biochemical symptoms of acquired ADP porphyria.Four of five patients shared the rs1805313T>C common variant: one patient carried the variant alone in homozygosis, two of them carried also the less frequent rs8177800G>A variant, and one also presented both the rs1139488T>C and rs1805312G>C variants.The last patient was heterozygous for the rs1800435G>C variant alone.These results confirm the significant molecular heterogeneity of ALAD gene and suggest that several common variants, alone or in combination, could confer increased susceptibility to lead exposure.All these variants have been reported to modulate the accumulation and/or distribution of lead in the body through an unknown mechanism.The majority of these variants are located in introns or near to splicing junctions, suggesting a putative effect on ALAD mRNA processing.Further studies are needed to evaluate presence and activity of new ALAD isoforms.