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hereditary coproporphyria

(Also see porphyria) Pathology: - acute hepatic porphyria Genetics: - autosomal dominant - associated with defects in CPOX Clinical manifestations: 1) may be asymptomatic 2) may present with mild neurologic, abdominal, or psychiatric symptoms 3) skin photosensitivity 4) symptoms are generally manifested with rapid onset, & can be precipitated by drugs, alcohol, caloric deprivation, infection, endocrine factors or stress Laboratory: 1) urine coproporphyrin III - overexcretion of coproporphyrin III in the urine 2) fecal coproporphyrin III a) overexcretion of coproporphyrin III in feces b) coproporphyrin III is excreted constantly in feces 3) urine amino-levulinic acid (ALA) - amino-levulinic acid (ALA) appears intermittently in urine 4) urine porphobilinogen - porphobilinogen appears intermittently in the urine Management: 1) general - management of acute attacks similar to acute intermittent porphyria (AIP) - avoid precipitating factors 2) pharmaceutical agents - narcotic analgesics for abdominal pain - phenothiazines (Compazine) for nausea - chloral hydrate for insomnia - low doses of benzodiazepines for anxiety are probably safe - parenteral nutrition if oral feeding is not possible - intravenous glucose (300 g/day) had been recommended in the past - intravenous heme: - 3-4 mg IV QD for 4 days - begin as soon as possible after attack - preparations: - hematin (Abbott) - heme albumin - heme arginate (Leiras Oy, Turka Finland) - heme albumin & arginate chemically stable & less likely than hematin to produce phlebitis or anticoagulant effect

Related

Coproporphyrinogen-III oxidase, mitochondrial; COX; Coprogen oxidase; Coproporphyrinogenase (CPOX, CPO, CPX) porphobilinogen safe & unsafe drugs in acute intermittent porphyria (AIP), variegate porphyria (VP) & hereditary coproporphyria

Specific

harderoporphyria

General

porphyria

Properties

ACCUMULATION: aminolevulinate porphobilinogen DEFICIENCY: Coproporphyrinogen-III oxidase, mitochondrial

Database Correlations

OMIM 121300

References

  1. Textbook of Biochemistry with Clinical Correlations, 3rd ed., TM Devlin (ed), Wiley-Liss, NY 1992 pg 1012
  2. Clinical Diagnosis & Management by Laboratory Methods, 19th edition, J.B. Henry (ed), W.B. Saunders Co., Philadelphia, PA. 1996, pg 172
  3. Williams Hematology, 5th edition, Beutler et al eds, McGraw-Hill, 1995 pg 739.