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References
Bertini E, Dionisi-Vici C, Garavaglia B, et al . Peripheral sensory-motor polyneuropathy, pigmentary retinopathy and fatal cardiomyopathy in long chain 3-hydroxy-acyl-CoA dehydrogenase deficiency. Eur J Pediatr 1992;151:121–6
Ijlist L, Uskikubo S, Kamijo T, et al. Long chain 3-hydroxy- acyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with clinical phenotype. J Inherit Metab Dis 1995;18:241--4.
Poll-The BT, Bonnefont JP, Ogier H, et al . Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6-C14 hydroxycarboxylic aciduria: a new defect in fatty acid oxidation? J Inherit Metab Dis 1988;11 (Suppl 2):183–5.
More R, Glasgow JF, Bingham MA, et al . Long chain 3- hydroxylacyl-coenzyme A dehydrogenase deficiency: diagnosis, plasma carnitine fractions and management in a further patient. Eur J Pediatr 1993;152:433–6
Roe CR, Coates PM . Mitochondrial fatty acid oxidation disorders. In: Scriver CR, et al, editors. The metabolic and molecular basis of inherited disease, vol 1. 7th ed. New York: McGraw-Hill, 1995:chap 45.
Wanders RJA, Ijlist L, Wanders RJ, Hagenfeldt L . Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta oxidation. Biochem Biophys Res Commun 1992;188:1139–45
Tyni T, Palotie A, Viinikka L, et al. Long chain 3-hydroxy-acyl- CoA dehydrogenase deficiency with G1528C mutation: clinical presentation of thirteen patients. J Pediatr 1997;130:67–76
Tyni T, Kivela T, Lappi M, et al . Ophthalmic findings in long chain 3-hydroxy-acyl-CoA dehydrogenase deficiency caused by the G1528C mutation. Ophthalmology 1998;105:810–24
Harding CO, Gillingham MB, van Calcar SC, et al . Docosahexaenoic acid and retinal function in children with long chain 3-hydroxyacyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 1999;22:276–80
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Puri, P., Chan, J. Stable pigmentary retinopathy in a child with 3-hydroxyacyl-CoA dehydrogenase deficiency. Eye 14, 659–661 (2000). https://doi.org/10.1038/eye.2000.161
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DOI: https://doi.org/10.1038/eye.2000.161