ORPHA:100924
Porphyria due to ALA dehydratase deficiency
Also called ALAD porphyria, Porphyria due to ALAD deficiency, Porphyria due to delta-aminolevulinate dehydratase deficiency, Porphyria of Doss
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Adolescent, Childhood
- Estimated prevalence
- <1 / 1 000 000 (Europe)
- Rarity class
- <1 / 1 000 000
ORPHA:100924 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Abnormal enzyme/coenzyme activity
- Purple urine
- Abnormal circulating porphyrin concentration
- Abnormality of the nervous system
- Peripheral neuropathy
- Muscle weakness