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Retinal dystrophy in long chain 3-hydroxy-acyl-coA dehydrogenase deficiency
I Schrijver-Wieling1, G H van Rens, D Wittebol-Post
1Department of Ophthalmology, University Hospital Utrecht, The Netherlands.
The British Journal of Ophthalmology
|April 1, 1997
Summary
Long chain 3-hydroxyacyl-CoA-dehydrogenase (LCHAD) deficiency, crucial for fatty acid breakdown, can cause severe hypoglycemia. Early diagnosis and dietary management are vital for improving life expectancy and preventing vision loss in affected children.
Area of Science:
- Biochemistry
- Genetics
- Ophthalmology
Background:
- Long chain 3-hydroxyacyl-CoA-dehydrogenase (LCHAD) is essential for fatty acid metabolism.
- LCHAD deficiency can lead to life-threatening hypoketotic hypoglycemia during fasting.
- Retinopathy and neuropathy are less common but significant clinical manifestations.