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.