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Abetalipoproteinaemia in adults: Role of vitamin therapy
Author(s) -
MacGilchrist A. J.,
Mills P. R.,
Noble M.,
Foulds W. S.,
Simpson J. A.,
Watkinson G.
Publication year - 1988
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799870
Subject(s) - medicine , vitamin , retinal , pediatrics , visual impairment , vitamin e deficiency , surgery , vitamin e , ophthalmology , biology , biochemistry , antioxidant , psychiatry
Summary The retinal and neurological complications of abetalipoproteinaemia may be preventable by replacing vitamins A and E from an early age, but their role in adult presentations is less clear. Two adult females with abetalipoproteinaemia have received 8 and 10 years respectively of replacement therapy with vitamins A, E and linoleic acid. In Case 1, visual function improved objectively on commencing therapy but has subsequently deteriorated and her neuropathy has slowly progressed. The rate of progression of neurological impairment in Case 2 was slowed but not halted by therapy, and her severe visual disturbance was unaffected. Replacement by fat soluble vitamins has only a limited role in the management of abetalipoproteinaemia once irreversible neurological/retinal damage has occurred.