Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review

Feeding difficulties in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Feeding difficulties are common in long chain 3-hydroxyacyl-CoA dehydrogenase deficiency in early childhood and are not associated with developmental disability, metabolic abnormalities, or the overnight feeding regimen. They are an inherent part of the phenotype and it is important to recognise them because of the distress and disruption they cause.

The mitochondrial long-chain trifunctional enzyme: 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase and 3-oxoacyl-CoA thiolase.

28 Brand, M. B., Harper, M.-E. and Taylor, H. C. (1993) Biochem. J. 291,739-748 29 Atkinson, D. (1977) Cellular Energy Metabolism and its Regulation, pp. 260-263, Academic Press, New York 30 Cornish-Bowden, A. (1983) Biochem. SOC. Trans. 11, 44-45 3 1 Scholz, R., Schwabe, U. and Soboll, S. (1 984) Eur. J. Biochem. 141,223-230 32 Williamson, J. R., Jakob, A. and Scholz, R. (1971) Metabolism 20, ...

Ophthalmologic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: presentation of a long-term survivor.

PURPOSE Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is one of the recently discovered defects of mitochondrial fatty acid beta-oxidation surprisingly associated with ophthalmologic abnormalities. The presentation of a long-term survivor may enlarge the clinical spectrum associated with this disorder. METHODS A 12-year retrospective review of the clinical course of a 19-year-...

[Short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) deficiency].

[Long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency and cardiomyopathy].