Article
5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin.
Molecular genetics and metabolism - 1 Dec 2020
Lahiji Arian Pourmehdi, Anderson Karl E, Chan Amy, Simon Amy, Desnick Robert J, Ramanujam V M Sadagopa
Abstract excerpt
BACKGROUND: 5-Aminolevulinic acid dehydratase (ALAD) porphyria (ADP) is an ultrarare autosomal recessive disease, with only eight documented cases, all of whom were males. Although classified as an acute hepatic porphyria (AHP), induction of the rate limiting hepatic enzyme 5-aminolevulinic acid synthase-1 (ALAS1) has not been demonstrated, and the marrow may also contribute excess 5-aminolevulinic acid (ALA)....
Topics
- 5-Aminolevulinate Synthetase
- Adolescent
- Adult
- Child
- Child, Preschool
- Female
- Heme
- Hemin
- Humans
- Infant
- Infant, Newborn