[Familial hypobetalipoproteinemia: description of a heterozygous form with important biochemical alterations].
We describe a case of a patient affected of familial hypobetalipoproteinemia with marked biochemical alterations (low cholesterol and triglyceride levels) which are characteristic of the homocygote form and with no apparent clinical manifestations. The determination of Apoprotein B and the family study permitted the diagnosis of a heterocygote form.
Muñoz Torres
M
M
Servicio de Endocrinología, Cátedra de Medicina Interna 1, Hospital Universitario de Granada.
Cano Romera
A
A
Domínguez
S
S
Cano Parra
M D
MD
Lobón
J A
JA
Escobar Jiménez
F
F
D000328:Adult; D002784:Cholesterol / Q000097:blood; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000097:blood* / Q000175:diagnosis / Q000235:genetics
D002784:Cholesterol
Hipobetalipoproteinemia familiar: descripción de una forma heterocigota con importantes alteraciones bioquímicas.