aminolevulinate (ALA) dehydratase deficiency pophyria; porphobilinogen (PBG) synthase deficiency porphyria

Etiology: 1) almost complete deficiency of a ALA dehydratase 2) accumulation of aminolevulinate 3) inhibition of heme synthesis Epidemiology: 1) rarest from of porphyria (only 4 cases reported) 2) onset: adolescence (2 cases), infancy (1 case), age 63 (1 case) Clinical manifestations: 1) insufficient data 2) that seen is similar to acute intermittent porphyria Laboratory: 1) urine a) markedly elevated aminolevulinate b) porphobilinogen within normal limits c) *markedly elevated coproporphyrin III d) *markedly elevated protoporphyrin IX 2) erythrocytes a) *markedly elevated coproporphyrin III b) *markedly elevated protoporphyrin IX * No satisfactory explanation for these findings. Perhaps ferrochelatase affected as well. Differential diagnosis: 1) lead poisoning 2) hereditary tyrosinemia I Management: 1) insufficient data 2) treat as for acute intermittent porphyria

Related

acute intermittent porphyria (AIP); Swedish porphyria delta-aminolevulinic acid dehydratase; ALADH; porphobilinogen synthase (ALAD) heme synthesis

Properties

ACCUMULATION: aminolevulinate DEFICIENCY: delta-aminolevulinic acid dehydratase

References

Williams Hematology, 5th edition, Beutler et al eds, McGraw-Hill, 1995 pg 732-33