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. 1997 Apr;81(4):291–294. doi: 10.1136/bjo.81.4.291

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

I Schrijver-Wieling 1, G H M B van Rens 1, D Wittebol-Post 1, J Smeitink 1, J P de Jager 1, H B C de Klerk 1, G H M van Lith 1
PMCID: PMC1722172  PMID: 9215057

Abstract

BACKGROUND—Long chain 3-hydroxy-acyl-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.



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Selected References

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  1. Bertini E., Dionisi-Vici C., Garavaglia B., Burlina A. B., Sabatelli M., Rimoldi M., Bartuli A., Sabetta G., DiDonato S. Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency. Eur J Pediatr. 1992 Feb;151(2):121–126. doi: 10.1007/BF01958956. [DOI] [PubMed] [Google Scholar]
  2. Carpenter K., Pollitt R. J., Middleton B. Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria. Biochem Biophys Res Commun. 1992 Mar 16;183(2):443–448. doi: 10.1016/0006-291x(92)90501-b. [DOI] [PubMed] [Google Scholar]
  3. Dionisi Vici C., Burlina A. B., Bertini E., Bachmann C., Mazziotta M. R., Zacchello F., Sabetta G., Hale D. E. Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. J Pediatr. 1991 May;118(5):744–746. doi: 10.1016/s0022-3476(05)80039-3. [DOI] [PubMed] [Google Scholar]
  4. Duran M., Wanders R. J., de Jager J. P., Dorland L., Bruinvis L., Ketting D., Ijlst L., van Sprang F. J. 3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment. Eur J Pediatr. 1991 Jan;150(3):190–195. doi: 10.1007/BF01963564. [DOI] [PubMed] [Google Scholar]
  5. El-Fakhri M., Middleton B. The existence of an inner-membrane-bound, long acyl-chain-specific 3-hydroxyacyl-CoA dehydrogenase in mammalian mitochondria. Biochim Biophys Acta. 1982 Nov 12;713(2):270–279. doi: 10.1016/0005-2760(82)90244-2. [DOI] [PubMed] [Google Scholar]
  6. Hale D. E., Thorpe C., Braat K., Wright J. H., Roe C. R., Coates P. M., Hashimoto T., Glasgow A. M. The L-3-hydroxyacyl-CoA dehydrogenase deficiency. Prog Clin Biol Res. 1990;321:503–510. [PubMed] [Google Scholar]
  7. IJlst L., Wanders R. J., Ushikubo S., Kamijo T., Hashimoto T. Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein. Biochim Biophys Acta. 1994 Dec 8;1215(3):347–350. doi: 10.1016/0005-2760(94)90064-7. [DOI] [PubMed] [Google Scholar]
  8. Jackson S., Bartlett K., Land J., Moxon E. R., Pollitt R. J., Leonard J. V., Turnbull D. M. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Pediatr Res. 1991 Apr;29(4 Pt 1):406–411. doi: 10.1203/00006450-199104000-00016. [DOI] [PubMed] [Google Scholar]
  9. Jackson S., Kler R. S., Bartlett K., Briggs H., Bindoff L. A., Pourfarzam M., Gardner-Medwin D., Turnbull D. M. Combined enzyme defect of mitochondrial fatty acid oxidation. J Clin Invest. 1992 Oct;90(4):1219–1225. doi: 10.1172/JCI115983. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Moore R., Glasgow J. F., Bingham M. A., Dodge J. A., Pollitt R. J., Olpin S. E., Middleton B., Carpenter K. Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency--diagnosis, plasma carnitine fractions and management in a further patient. Eur J Pediatr. 1993 May;152(5):433–436. doi: 10.1007/BF01955905. [DOI] [PubMed] [Google Scholar]
  11. Poll-The B. T., Billette de Villemeur T., Abitbol M., Dufier J. L., Saudubray J. M. Metabolic pigmentary retinopathies: diagnosis and therapeutic attempts. Eur J Pediatr. 1992 Jan;151(1):2–11. doi: 10.1007/BF02073880. [DOI] [PubMed] [Google Scholar]
  12. Przyrembel H., Jakobs C., IJlst L., de Klerk J. B., Wanders R. J. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 1991;14(5):674–680. doi: 10.1007/BF01799932. [DOI] [PubMed] [Google Scholar]
  13. Rocchiccioli F., Wanders R. J., Aubourg P., Vianey-Liaud C., Ijlst L., Fabre M., Cartier N., Bougneres P. F. Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood. Pediatr Res. 1990 Dec;28(6):657–662. doi: 10.1203/00006450-199012000-00023. [DOI] [PubMed] [Google Scholar]
  14. Stanescu B., Michiels J., Lyon G. Electroretinography (ERG) and hereditary transmission in some neurologic heredo-degenerative diseases. Birth Defects Orig Artic Ser. 1982;18(6):255–262. [PubMed] [Google Scholar]
  15. Uchida Y., Izai K., Orii T., Hashimoto T. Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoyl-coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein. J Biol Chem. 1992 Jan 15;267(2):1034–1041. [PubMed] [Google Scholar]
  16. Wanders R. J., Duran M., Ijlst L., de Jager J. P., van Gennip A. H., Jakobs C., Dorland L., van Sprang F. J. Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase. Lancet. 1989 Jul 1;2(8653):52–53. doi: 10.1016/s0140-6736(89)90300-0. [DOI] [PubMed] [Google Scholar]
  17. Wanders R. J., IJlst L., van Gennip A. H., Jakobs C., de Jager J. P., Dorland L., van Sprang F. J., Duran M. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid beta-oxidation. J Inherit Metab Dis. 1990;13(3):311–314. doi: 10.1007/BF01799383. [DOI] [PubMed] [Google Scholar]

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