ALAD encodes aminolevulinate dehydratase (330 aa). Catalyzes an early step in the biosynthesis of tetrapyrroles. Binds two molecules of 5-aminolevulinate per subunit, each at a distinct site, and catalyzes their condensation to form porphobilinogen Highest expression in Adrenal Gland (189.2 TPM) and Brain Spinal cord cervical c-1 (126.5 TPM).

Porphyria due to ALA dehydratase deficiency has been associated with mutations in the ALAD gene on chromosome 9.

The ALAD protein participates in ALAD condenses 2 dALAs to form PBG and Heme biosynthesis pathways.

ALAD is classified as a druggable target (Enzyme category) with score 52.2.

Genetic testing for ALAD is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for porphyria due to ALA dehydratase deficiency has been reported in the published literature.

Phenotype severity distribution: 4 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

2 clinical trials registered, 1 recruiting. Interventions under study include other interventions. Research is sponsored by a mix of industry and academic institutions.

56 publications have been identified in PubMed for porphyria due to ALA dehydratase deficiency. Research spans Review / Meta-Analysis (48%), Epidemiology / Natural History (16%), and Diagnostic / Biomarker (11%).

Recent Publications

• Baravelli CM (2026). [PMID: 41995049](https://pubmed.ncbi.nlm.nih.gov/41995049/). *Liver Int*. [Epidemiology / Natural History]

• Barman-Aksözen J (2026). [PMID: 41885813](https://pubmed.ncbi.nlm.nih.gov/41885813/). *Expert Opin Pharmacother*. [Review / Meta-Analysis]

• Kothadia JP (2026). [PMID: 30725863](https://pubmed.ncbi.nlm.nih.gov/30725863/). *Unknown Journal*. [Epidemiology / Natural History]

• Schedlbauer A (2026). [PMID: 41677324](https://pubmed.ncbi.nlm.nih.gov/41677324/). *Biosci Rep*. [Basic Science / Preclinical]

• Mohan G (2026). [PMID: 32809671](https://pubmed.ncbi.nlm.nih.gov/32809671/). *Unknown Journal*. [Review / Meta-Analysis]

• Di Pierro E (2026). [PMID: 41268747](https://pubmed.ncbi.nlm.nih.gov/41268747/). *J Intern Med*. [Basic Science / Preclinical]

• Gonzalez-Mosquera LF (2026). [PMID: 31613445](https://pubmed.ncbi.nlm.nih.gov/31613445/). *Unknown Journal*. [Review / Meta-Analysis]

• Musayeva G (2026). [PMID: 41857576](https://pubmed.ncbi.nlm.nih.gov/41857576/). *Orphanet J Rare Dis*. [Diagnostic / Biomarker]

• Edel Y (2026). [PMID: 42069412](https://pubmed.ncbi.nlm.nih.gov/42069412/). *Lancet Haematol*. [Review / Meta-Analysis]

• Dyńka D (2026). [PMID: 41486865](https://pubmed.ncbi.nlm.nih.gov/41486865/). *Ann Med*. [Review / Meta-Analysis]