Article
[delta-Aminolevulinate dehydratase deficiency].
Nihon rinsho. Japanese journal of clinical medicine - 1 Jun 1995
Fujita H, Ishida N, Akagi R
Abstract excerpt
delta-Aminolevulinate dehydratase (ALAD: E. C. 4.2.1.24), the second enzyme in the heme biosynthetic pathway, condenses two moles of delta-aminolevulinic acid to form porphobilinogen. ALAD deficiency is well known to develop signs and symptoms of typical hepatic porphyria, and classified into three categories as follows: (i) ALAD porphyria, a genetic defect of the enzyme, (ii) tyrosinemia type I, a genetic defect...
Topics
- Base Sequence
- Humans
- Hydrolases
- Lead Poisoning
- Molecular Sequence Data
- Mutation
- Porphobilinogen Synthase
- Porphyrias, Hepatic
