Name
HEREDITARY COPROPORPHYRIA
DESCRIPTION
DETAIL
AUTOSOMAL DOMINANT DISEASE* COPROPORPHYRINES ARE MARKEDLY INCREASED IN URINE & FECES. 8 URINARY ALA & PBG LEVELS INCREASED DURING ATTACK & RETURN TO NORMAL ONCE SYMPTOMS RESOLVE * COPRO-OXIDASE ACTIVITY IS REDUCED - CAN BE MEASURED IN THE CELLS. * DNA DIAGNOSIS IS ALSO POSSIBLE
TYPENOTES
LATENT BEFORE PUBERTY.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