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Start free with EleplanPorphyria due to ALA dehydratase deficiency
ORPHA:100924Disease
Also called ALAD porphyria · Porphyria due to ALAD deficiency · Porphyria due to delta-aminolevulinate dehydratase deficiency · Porphyria of Doss
What it is
A rare acute hepatic porphyria characterized by neurovisceral attacks without skin symptoms.
Key facts
- Prevalence
- <1 / 1 000 000 (Europe)
- Age of onset
- Adolescent, Childhood
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
10Sometimes5–29%
31- Abdominal distention
- Abnormal fear/anxiety-related behavior
- Abnormality of the respiratory system
- Agitation
- Ankle flexion contracture
- Anxiety
- Apathy
- Autism
and 23 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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