title: [Familial hypobetalipoproteinemia].
abstract: We present the case of a 5-month-old girl, with consanguineous parents, who was born at 28 weeks of gestation and who showed intermittent signs of abdominal distension accompanied by increased regurgitation and vomiting after food intake. Significant biochemical alterations (reduced levels of triglicerides, cholesterol, and vitamin A and absence of apolipoprotein B and vitamin E) led to the diagnosis of homozygous hypobetalipoproteinemia, which was subsequently confirmed by genetic studies.
authors.affiliation: Servicios de Análisis Clínicos. Complejo Hospitalario de Jaén. España. mgasso@supercable.es
authors.forename: M
authors.initials: M
authors.lastname: Gassó de Campos
authors.forename: B
authors.initials: B
authors.lastname: Espín Jaime
authors.forename: J
authors.initials: J
authors.lastname: Gómez Arias
authors.forename: R
authors.initials: R
authors.lastname: Rodríguez García
authors.forename: M V
authors.initials: MV
authors.lastname: Camacho Reina
authors.forename: F
authors.initials: F
authors.lastname: Gámez Contreras
authors.forename: F
authors.initials: F
authors.lastname: González Rivera
mesh_terms: D005260:Female; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000235:genetics*; D007223:Infant; D008297:Male; D014802:Vitamin A Deficiency / Q000150:complications; D014811:Vitamin E Deficiency / Q000150:complications