The British journal of ophthalmology · 1997
Retinal dystrophy in long chain 3-hydroxy-acyl-coA dehydrogenase deficiency.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Schrijver-Wieling I, van Rens G H, Wittebol-Post D, Smeitink J A, de Jager J P, de Klerk H B, van Lith G H
Аннотация
BACKGROUND: Long chain 3-hydroxyacyl-CoA-dehydrogenase (LCHAD) is one of the enzymes involved in the breakdown of fatty acids. A deficiency of this enzyme is associated with life threatening episodes of hypoketotic hypoglycaemia during prolonged fasting. Neuropathy and retinopigmentary changes were mentioned in only a few cases.
METHODS: The case histories of two girls, aged 8 and 15 years, with LCHAD deficiency are reported.
RESULTS: Both children with LCHAD deficiency exhibited extensive macular pigmentary depositions and a 'salt and pepper' scattering of pigment in their retinas. The patients have decreasing visual acuity.
CONCLUSION: The early recognition of LCHAD deficiency can increase the life expectancy in these patients through avoiding catabolism and through appropriate diets. Patients tend to be free of symptoms between attacks, however. Testing for the disorder, therefore, should be included in the diagnostic process for children with retinal dystrophy, in particular when other clinical symptoms are known to have occurred.
METHODS: The case histories of two girls, aged 8 and 15 years, with LCHAD deficiency are reported.
RESULTS: Both children with LCHAD deficiency exhibited extensive macular pigmentary depositions and a 'salt and pepper' scattering of pigment in their retinas. The patients have decreasing visual acuity.
CONCLUSION: The early recognition of LCHAD deficiency can increase the life expectancy in these patients through avoiding catabolism and through appropriate diets. Patients tend to be free of symptoms between attacks, however. Testing for the disorder, therefore, should be included in the diagnostic process for children with retinal dystrophy, in particular when other clinical symptoms are known to have occurred.