A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrin...
Comprehensive, easy-to-understand information about this condition
How we create this content →Report Generation Failed
We couldn't automatically generate the report. This may be due to temporary service issues.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 4 companies have orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.