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Biochemical differentiation of the porphyrias.
Clin Biochem. 1999 Nov; 32(8):609-19.CB

Abstract

OBJECTIVES

To differentiate the porphyrias by clinical and biochemical methods.

DESIGN AND METHODS

We describe levels of blood, urine, and fecal porphyrins and their precursors in the porphyrias and present an algorithm for their biochemical differentiation. Diagnoses were established using clinical and biochemical data. Porphyrin analyses were performed by high performance liquid chromatography.

RESULTS AND CONCLUSIONS

Plasma and urine porphyrin patterns were useful for diagnosis of porphyria cutanea tarda, but not the acute porphyrias. Erythropoietic protoporphyria was confirmed by erythrocyte protoporphyrin assay and erythrocyte fluorescence. Acute intermittent porphyria was diagnosed by increases in urine delta-aminolevulinic acid and porphobilinogen and confirmed by reduced erythrocyte porphobilinogen deaminase activity and normal or near-normal stool porphyrins. Variegate porphyria and hereditary coproporphyria were diagnosed by their characteristic stool porphyrin patterns. This appears to be the most convenient diagnostic approach until molecular abnormalities become more extensively defined and more widely available.

Authors+Show Affiliations

Division of Biochemistry, The Ottawa Hospital and the Department of Pathology and Laboratory Medicine, University of Ottawa, Ontario, Canada.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

10638943

Citation

Hindmarsh, J T., et al. "Biochemical Differentiation of the Porphyrias." Clinical Biochemistry, vol. 32, no. 8, 1999, pp. 609-19.
Hindmarsh JT, Oliveras L, Greenway DC. Biochemical differentiation of the porphyrias. Clin Biochem. 1999;32(8):609-19.
Hindmarsh, J. T., Oliveras, L., & Greenway, D. C. (1999). Biochemical differentiation of the porphyrias. Clinical Biochemistry, 32(8), 609-19.
Hindmarsh JT, Oliveras L, Greenway DC. Biochemical Differentiation of the Porphyrias. Clin Biochem. 1999;32(8):609-19. PubMed PMID: 10638943.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Biochemical differentiation of the porphyrias. AU - Hindmarsh,J T, AU - Oliveras,L, AU - Greenway,D C, PY - 2000/1/19/pubmed PY - 2000/1/19/medline PY - 2000/1/19/entrez SP - 609 EP - 19 JF - Clinical biochemistry JO - Clin. Biochem. VL - 32 IS - 8 N2 - OBJECTIVES: To differentiate the porphyrias by clinical and biochemical methods. DESIGN AND METHODS: We describe levels of blood, urine, and fecal porphyrins and their precursors in the porphyrias and present an algorithm for their biochemical differentiation. Diagnoses were established using clinical and biochemical data. Porphyrin analyses were performed by high performance liquid chromatography. RESULTS AND CONCLUSIONS: Plasma and urine porphyrin patterns were useful for diagnosis of porphyria cutanea tarda, but not the acute porphyrias. Erythropoietic protoporphyria was confirmed by erythrocyte protoporphyrin assay and erythrocyte fluorescence. Acute intermittent porphyria was diagnosed by increases in urine delta-aminolevulinic acid and porphobilinogen and confirmed by reduced erythrocyte porphobilinogen deaminase activity and normal or near-normal stool porphyrins. Variegate porphyria and hereditary coproporphyria were diagnosed by their characteristic stool porphyrin patterns. This appears to be the most convenient diagnostic approach until molecular abnormalities become more extensively defined and more widely available. SN - 0009-9120 UR - https://www.unboundmedicine.com/medline/citation/10638943/Biochemical_differentiation_of_the_porphyrias_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0009-9120(99)00067-3 DB - PRIME DP - Unbound Medicine ER -