Retinal dystrophy in long chain 3-hydroxy-acyl-coA dehydrogenase deficiency.

@article{SchrijverWieling1997RetinalDI,
  title={Retinal dystrophy in long chain 3-hydroxy-acyl-coA dehydrogenase deficiency.},
  author={Iris Schrijver-Wieling and Ger Hmb van Rens and Dienke Wittebol-Post and Jan A M Smeitink and Julien P de Jager and Hans B C de Klerk and G H van Lith},
  journal={The British journal of ophthalmology},
  year={1997},
  volume={81 4},
  pages={
          291-4
        }
}
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… CONTINUE READING

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