Name
VARIGATE PORPHYRIA
DESCRIPTION
DETAIL
AUTOSOMAL DOMINANT DISEASE* COPROPORPHYRINES, PROTOPORPHYRINSARE MARKEDLY INCREASED IN URINE & FECES. * URINARY ALA, COPROPORPHYRINS & PBG LEVELS INCREASED DURING ATTACK & RETURN TO NORMAL ONCE SYMPTOMS RESOLVE * PLASMA PORPHYRINS ARE INCREASED * FLUORESCENCE EMISSION SPECTRUN OF PORPHYRINS IN PLASMA AT NEUTRAL PH IS DIFFERENT FROM ALL OTHER PORPHYRIAS * ASSAY OF PROTO-OXIDASE ACTIVITY IN CULTURED FIBROBLASTS OR LYMPHOCYTES
TYPENOTES
ENVIRONMENTAL TRIGGERS, INFECTION, SURGERY & LOW CALORIC DIET ARE IIMPORTANT IN MANY ATTACKS OF PORPHYRIA. GENETIC CARRIERS WHO AVOID THESE MAY NEVER EXPERIENCE SYMPTOMS. TT : I.V. HEME IS MORE EFFECTIVE THAN I.V. GLUCOSE & RESPONSE TO HEME THERAPY IS REDUCED IF DELAYED. 3 - 4 MG OF HEME, IN THE FORM OF HEMATIN, HEME ALBUMIN, HEME ARGINATE MAY BE INFUSED DAILY FOR 4 DAYS
RELATED DISEASE
Not Available Disease
DISEASE
INVESTIGATION
COMPLETE BLOOD COUNT, URINE PORPHYRINS & PORPHOBILINOGENS, URINARY ALA