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GTR Home > Conditions/Phenotypes > Porphobilinogen synthase deficiency

Porphobilinogen synthase deficiency

Synonyms
ALAD DEFICIENCY; DELTA-AMINOLEVULINATE DEHYDRATASE DEFICIENCY; DOSS PORPHYRIA; PORPHYRIA, ALAD; Porphyria due to ALA dehydratase deficiency; Porphyria, acute hepatic
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

ALAD porphyria is a rare autosomal recessive disorder that has been reported and confirmed by genetic analysis in only 5 patients (Jaffe and Stith, 2007). [from OMIM]

Available tests

29 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (29 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALADH, PBGS, ALAD
    Summary: aminolevulinate dehydratase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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