Reference Values of 5-Aminolevulinate Dehydrase and Porphobilinogen Deaminase in the Spanish Population from Madrid

Santos, José Luis; Fontanellas, Antonio; Batlle, Alcira; Salamanca, Rafael Enrı́quez de

doi:10.1006/eesa.1997.1613

Cited by 8 publications

(2 citation statements)

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“…Because symptoms may be followed by full biochemical remission, normal metabolite measurements do not exclude the diagnosis, particularly in AIP, and enzyme measurements lack sufficient diagnostic accuracy. 51 In this situation, DNA analysis may identify a diseasespecific mutation or, for mutation-negative patients, in combination with biochemical investigation, allow the patient's risk of being affected to be assessed. 41 Our current practice does not include analysis of all three genes as this is not considered cost-effective.…”

Section: Uros Genementioning

confidence: 99%

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Role of genetic testing in the management of patients with inherited porphyria and their families

Whatley

Badminton

2013

Ann Clin Biochem

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The porphyrias are a group of mainly inherited metabolic conditions that result from partial deficiency of individual enzymes in the haem biosynthesis pathway. Clinical presentation is either with acute neurovisceral attacks, skin photosensitivity or both, and is due to overproduction of pathway intermediates. The primary diagnosis in the proband is based on biochemical testing of appropriate samples, preferably during or soon after onset of symptoms. The role of genetic testing in the autosomal dominant acute porphyrias (acute intermittent porphyria, hereditary coproporphyria and variegate porphyria) is to identify presymptomatic carriers of the family specific pathogenic mutation so that they can be counselled on how to minimize their risk of suffering an acute attack. At present the additional genetic factors that influence penetrance are not known, and all patients are treated as equally at risk. Genetic testing in the erythropoietic porphyrias (erythropoietic protoporphyria, congenital erythropoietic porphyria and X-linked dominant protoporphyria) is focused on predictive and preconceptual counselling, prenatal testing and genotype-phenotype correlation. Recent advances in analytical technology have resulted in increased sensitivity of mutation detection with success rates of greater than 90% for most of the genes. The ethical and consent issues are discussed. Current research into genetic factors that affect penetrance is likely to lead to a more refined approach to counselling for presymptomatic gene carriers.

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Section: Uros Genementioning

confidence: 99%

Section: Autosomal Dominant Porphyriasmentioning

confidence: 99%