Abetalipoproteinemia treated with parenteral and oral vitamins A and E, and with medium chain triglycerides.
An 11-year-old girl with abetalipoproteinemia was treated with parenteral vitamin A and vitamin E for two and a half years. Some improvement in neurological and visual deficits was noted. On changing to oral vitamin E and later with addition of medium chain triglycerides (MCT) to the diet, a considerable improvement in her general wellbeing, neuromuscular lesions and ophthalmological symptoms was noted. This regimen is being adhered to for five and a half years. The condition is stable with no further improvement.
D000012:Abetalipoproteinemia / Q000178:diet therapy / Q000188:drug therapy* / Q000235:genetics; D000284:Administration, Oral; D002648:Child; D004041:Dietary Fats / Q000008:administration & dosage / Q000627:therapeutic use*; D004359:Drug Therapy, Combination; D005260:Female; D006801:Humans; D014280:Triglycerides / Q000008:administration & dosage / Q000627:therapeutic use*; D014801:Vitamin A / Q000008:administration & dosage / Q000627:therapeutic use*; D014810:Vitamin E / Q000008:administration & dosage / Q000627:therapeutic use*
D004041:Dietary Fats; D014280:Triglycerides; D014801:Vitamin A; D014810:Vitamin E