title: [Abetalipoproteinemia: case report].
abstract: The abetalipoproteinemia is a recessively inherited defect in the formation of the proteins coating chylomicrons. Their absence compromises the transport of absorbed fats out of the enterocytes into the lymphatic system and the general circulation. Clinical features include steatorrhea, retarded growth, acanthocytosis of erythrocytes, retinitis pigmentosa and a chronic progressive neurological disorder with ataxia. We describe here the case of a 3 year old girl.
authors.affiliation: Dipartimento di Pediatria, Universitá degli Studi di Padova.
authors.forename: G
authors.initials: G
authors.lastname: Guariso
authors.forename: M S
authors.initials: MS
authors.lastname: Chiarelli
authors.forename: C
authors.initials: C
authors.lastname: Nichetti
authors.forename: M C
authors.initials: MC
authors.lastname: Montesco
authors.forename: L
authors.initials: L
authors.lastname: Zancan
mesh_terms: D000012:Abetalipoproteinemia / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008077:Lipoproteins, LDL / Q000097:blood / Q000378:metabolism; D008099:Liver / Q000378:metabolism
chemical_list: D008077:Lipoproteins, LDL
vernacular_title: Abetalipoproteinemia: descrizione di un caso.