Favism in GdMediterranean Heterozygous Females

Females heterozygous for creatine transporter deficiency

The creatine transporter deficiency is an X-linked cause of intellectual disability. We investigated the clinical features and pattern of X-inactivation in a Dutch cohort of eight female heterozygotes. We show that symptoms of the creatine transporter deficiency (intellectual disability, learning difficulties, constipation) can be present in female heterozygotes. We further show that the diagno...

Favism.

Cardiac manifestations of Anderson-Fabry disease in heterozygous females.

OBJECTIVES We sought to define the prevalence of cardiac involvement in female patients with Anderson-Fabry disease (AFD). BACKGROUND Anderson-Fabry disease is a rare inborn X-linked lysosomal storage disorder. Globotriaosylceramide (Gb(3)), the major substrate of the deficient alpha-galactosidase A enzyme, accumulates progressively in vulnerable cells, including the cardiovascular system. It...

Favism in London.

Favism is an acute haemolytic anaemia caused by an acquired allergy to a protein of the broad bean (Viciafava). Reports of the disease date from before the fifth century B.C. and in a good review of the literature Luisada (1941) points out that favism used to have a very wide distribution in the Mediterranean basin. It now occurs particularly in the Sardinians, who seem to have retained the mor...

Favism in Childhood *

"Favism" defines an acute hemolytic episode and its sequelae following ingestion of the bean or inhalation of the pollen of Vicia faba (broad bean or fava bean) in an individual probably sensitized by previous contact of a similar nature. The features of this syndrome and its potentially widespread occurrence in this country,t together with an excellent account of its prevalence in Italy, were ...