INVESTIGADORES
DE SIERVI Adriana
artículos
Título:
Diagnosis of latent acute intermittent porphyria by genetic analysis.
Autor/es:
DE SIERVI A; VARELA L; PARERA V; BATLLE AMC; ROSSETTI MV
Revista:
ANNALS OF CLINICAL BIOCHEMISTRY
Editorial:
RSM
Referencias:
Año: 2001 vol. 38 p. 149 - 152
ISSN:
0004-5632
Resumen:
Porphyrias, a group of inherited enzyme disorders of the haem biosynthetic pathway, can be clinically classi®ed into acute and non-acute types. Acute intermittent porphyria (AIP), the most common acute type, is an autosomal dominant disorder caused by a partial de®ciency of porphobilinogen deaminase (PBG-D).1 Acute attacks of this disease are often precipitated by factors such as drugs, alcohol and caloric deprivation, and early detection is important for the prevention of acute attacks. In asymptomatic carriers the excretion of haem precursors is often normal in between attacks, and diagnosis is based on the determination of erythrocyte PBG-D activity. There is, however, some overlap in erythrocyte PBG-D activity between normal individuals and AIP patients.2 attacks of this disease are often precipitated by factors such as drugs, alcohol and caloric deprivation, and early detection is important for the prevention of acute attacks. In asymptomatic carriers the excretion of haem precursors is often normal in between attacks, and diagnosis is based on the determination of erythrocyte PBG-D activity. There is, however, some overlap in erythrocyte PBG-D activity between normal individuals and AIP patients.2 1 Acute attacks of this disease are often precipitated by factors such as drugs, alcohol and caloric deprivation, and early detection is important for the prevention of acute attacks. In asymptomatic carriers the excretion of haem precursors is often normal in between attacks, and diagnosis is based on the determination of erythrocyte PBG-D activity. There is, however, some overlap in erythrocyte PBG-D activity between normal individuals and AIP patients.22 These limitations prompted us to undertake the study of the mutations responsible for AIP at the DNA level.