a defect in this enzyme results in accumulation of the porphyrin precursors porphobilinogen and 5-aminolevulinic acid in plasma; increase of fecal and urinary levels of porphyrin and coproporphyrin. symtpoms include abdominal pain, vomiting, diarrhea, constipation, muscle weakness, seizures, and mental changes such as anxiety and hallucinations.
Parent Term
Biochemical pathway
Parent Definition
A linked series of chemical reactions that occur in a defined order within or between organism cells, and lead to a known function or end product.
Other Compounds Mapped to 'Porphyria Variegata (PV)'