| Revue: | Annals of hepatology |
| Base de datos: | PERIÓDICA |
| Número de sistema: | 000417035 |
| ISSN: | 1665-2681 |
| Autores: | Najafi Sani, Mehri1 Sabbaghian, Mozhgan1 Mahjoob, Fatemeh1 Cefalu, Angelo B2 Averna, Maurizio R2 Rezaei, Nima1 |
| Instituciones: | 1Tehran University of Medical Sciences, Children’s Medical Center, Teherán. Irán 2Universita di Palermo, Dipartimento di Medicina Interna e Malattie Emergenti, Palermo, Sicilia. Italia |
| Año: | 2011 |
| Periodo: | Abr-Jun |
| Volumen: | 10 |
| Número: | 2 |
| Paginación: | 221-226 |
| País: | México |
| Idioma: | Inglés |
| Tipo de documento: | Artículo |
| Enfoque: | Caso clínico |
| Resumen en inglés | Abetalipoproteinemia (ABL), or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia retinitis pigmentosa, progressive neuropathy and acanthocytosis from early infancy. We describe the clinical and molecular characterization of a 6-month-old infant born of consanguineous, apparently healthy parents from Iran. The patient was hospitalized because of failure to thrive, greasy stool and vomiting. The patient’s serum lipid profile, the clinical phenotype and the duodenal histology suggested the clinical diagnosis of ABL. The MTP gene analysis by direct sequencing revealed a novel homozygous mutation (c.1586 A > G-H529R). The parents were heterozygotes for the same mutation and interestingly the father showed a lipid profile characterized by a slight reduction of total and LDL-cholesterol plasma levels |
| Disciplinas: | Medicina |
| Palabras clave: | Genética, Metabolismo y nutrición, Síndrome de Bassen-Kornzwerig, Abetalipoproteinemia, Regulación génica, Mutaciones, Hipocolesterolemia, Lipoproteínas |
| Keyword: | Genetics, Metabolism and nutrition, Bassen-Kornzweig syndrome, Abetalipoproteinemia, Gene regulation, Mutations, Hypocholesterolemia, Lipoproteins |
| Texte intégral: | Texto completo (Ver PDF) |
