Identification of two novel mutations and long-term follow-up in abetalipoproteinemia: a report of four cases
| Autor: | Michel Bovier-Lapierre, Laurence Chardon, Alain Lachaux, Laurence Michel-Calemard, Bernard Dingeon, Philippe Moulin, Agnès Sassolas |
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| Rok vydání: | 2008 |
| Předmět: |
Vitamin
Male medicine.medical_specialty Malabsorption Ataxia Adolescent medicine.medical_treatment Penetrance medicine.disease_cause Microsomal triglyceride transfer protein chemistry.chemical_compound Internal medicine medicine Humans Vitamin E Deficiency Frameshift Mutation Mutation ABL biology business.industry Vitamin E Abetalipoproteinemia Infant medicine.disease Pedigree Endocrinology chemistry Codon Nonsense Child Preschool Pediatrics Perinatology and Child Health biology.protein Female medicine.symptom business Carrier Proteins Follow-Up Studies |
| Zdroj: | European journal of pediatrics. 168(8) |
| ISSN: | 1432-1076 |
| Popis: | Abetalipoproteinemia (ABL; OMIM 200100) is an inherited disorder resulting from mutations in the microsomal triglyceride transfer protein gene and characterized by a major lipid malabsorption leading to extremely low plasma cholesterol and triglyceride levels and fat-soluble vitamins deficiencies. We report two novel mutations (c.59del17 and c.582C>A) and the long-term follow-up of four ABL subjects treated with vitamin E. The good outcome of the early-treated patients contrasts with severe ataxia and retinopathy observed in the patient with delayed treatment. In conclusion, early diagnosis and early management are essential to prevent the manifestations following the fat-soluble vitamin deficiencies. |
| Databáze: | OpenAIRE |
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