Developmental coordination disorder and muscle weakness are usually treated with physiotherapy or occupational therapy. Dietary restriction of triglycerides has also been useful. Nutritionists often work with medical professionals to design appropriate dietary treatments for their patients. Prognosis
Prognosis can vary heavily based on the severity of the neurological dysfunction. If treatment is initiated early in disease the neurologic sequelae may be reversed and further deterioration can be prevented. Long-term outlook is reasonably good for most people when diagnosed and treated early. A case study presented a female patient diagnosed at the age of 11. Despite the relatively late diagnosis, the patient married and at the age of 34, gave birth to a full-term healthy infant. Her medication included vitamin K 10 mg twice a week, beta-carotene 40,000 IU daily, vitamin A 10,000 IU daily, vitamin E 400 IU daily, vitamins B6 and B12, calcium, magnesium and eye drops.Prolonged vitamin deficiencies can further compromise health. Specifically, a prolonged vitamin E deficiency can lead to the development of limiting ataxia and gait disturbances. Some individuals may develop retinal degeneration and blindness. If left untreated, the condition may lead to death. Current Research
The primary goal with Abetalipoproteinemia research is focused on supplying the fat-soluble vitamins the body lacks. Previous research considered the short term use of intravenous infusion of vitamins A and E. The goal was to determine whether these infusions would delay or counteract the symptoms in patients.
No results were posted.More recent research has focused on different ways to supply the patient with Vitamin E. In 2018, the Journal of Lipid Research posted a study testing alternative forms of Vitamin E absorption. Currently, Vitamin E is most often supplemented in the fat-soluble form vitamin E acetate. Due to fat malabsorption, the intended supplementation is considerable compromised. Two different forms were tested: vitamin E tocofersolan and α-tocopherol acetate. The study concluded that plasma bioavailabilities were extremely low (2.8% and 3.1%, respectively. Additionally, plasma concentrations of tocopherol were not significantly different in patients.This study provides new insight in vitamin E supplementation and suggest further research is needed with different forms of Vitamin E as possible treatment options to abetalipoproteinemia.Currently, there is a clinical study recruiting abetalipoproteinemia patients to study inherited retinal degenerative disease. References
External links
Abetalipoproteinemia at NLM Genetics Home Reference