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

British Journal of Ophthalmology

Volumn 81, Issue 4, 1997, Pages 291-294

  Schrijver Wieling, Iris ^a,b   Van Rens, Ger H M B ^b   Wittebol Post, Dienke ^a   Smeitink, Jan A M ^c   De Jager, Jan P ^b   De Klerk, Hans B C ^d   Van Lith, Godfried H M ^e  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b ELKERLIEK HOSPITAL   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^e Oogziekenhuis Rotterdam ^*  (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE;

ADOLESCENT; ARTICLE; CASE REPORT; CATABOLISM; CLINICAL FEATURE; DIET THERAPY; ENZYME DEFICIENCY; FATTY ACID METABOLISM; FEMALE; HUMAN; LIFE EXPECTANCY; PRIORITY JOURNAL; RETINA DYSTROPHY; SCHOOL CHILD; VISUAL ACUITY;

EID: 0030992132     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.81.4.291     Document Type: Article

References (22)

1. Roe CR, Coates PM. Acyl-CoA dehydrogenase deficiencies. In: Scriver CR, Beandit AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease. Vol I. 6th ed. New York: McGraw Hill, 1989:889-914.
2. 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;713:270-9.
3. Moore R, Glasgow JFT, Bingham MA, Dodge JA, Pollitt RJ, Olpin SE, et al. Long-chain 3-hydroxy-acyl-coenzyme A dehydrogenase deficiency - diagnosis, plasma carnitine fractions and management in a further patient. Eur J Pediatr 1993;152:433-6.
4. Carpenter K, Pollitt RJ, 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;183: 443-8.
5. Uchida Y, Izai K, Orii T, Hashimoto T. Novel fatty acid beta-oxidation enzymes in rat liver mitochondria: purification and properties of enoyl-CoA hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein. J Biol Chem 1992;267:1034-41.
6. Ijist L, Ruiter JPN, Jacobs M, Hoovers JMN, Hashimoto T, Wanders RJA. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: mutation analysis, localisation of the gene for the alpha subunit to 2p23.2-2p24.1 and prenatal diagnosis. Enzyme & Protein 1995;48:123. (The name of Dr IJIst is misprinted as Ijist.)
7. Jackson S, Bartlett K, Land J, Moxon ER, Pollitt RJ, Leonard JV, Turnbull DM. Long-chain 3- hydroxy-acyl-CoA dehydrogenase deficiency. Pediatr Res 1991;29:406-11.
8. Jackson S, Singh Kler R, Bartlett K, Briggs H, Bindoff LA, Pourfarzam M, et al. Combined enzyme defect of mitochondrial fatty acid oxidation. J Clin Invest 1992;90: 1219-25.
9. Bertini E, Dionisi-Vici C, Garavaglia B, Burlina AB, Sabatelli M, Rimoldi M, et al. Peripheral sensory-motor polyneuropathy, pigmentary reunopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency. Eur J Pediatr 1992;151:121-6.
10. Wanders RJA, Duran M, IJIst L, de Jager JP, van Gennip AH, Jakobs C, et al. Sudden infant death and long-chain 3-hydroxy-acyl-CoA dehydrogenase. Lancet 1989;2:52-3.
11. Rocchiccioli F, Wanders RJA, Aubourg P, Vianey-Liaud C, IJIst L, Fabre M, et al. Deficiency of long-chain 3-hydroxy-acyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood. Pediatr Res 1990;28: 657-62.
12. Przyrembel H, Jakobs C, IJIst L, de Klerk JBC, Wanders RJA. Long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency. J Inherited Metab Dis 1991;14:674-80.
13. Wanders RJA, IJIst L, van Gennip AH, Jakobs C, de Jager JP, Dorland L, et al. Long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid beta-oxidation. J Inherited Metab Dis 1990;13:311-4.
14. Duran M, Wanders RJA, de Jager JP, Dorland L, Bruinvis L, Kerting D, et al. 3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxy-acyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment. Eur J Pediatr 1991;150:190-5.
15. Dionisi-Vici C, Burlina AB, Bertini E, Bachmann C, Mazziotta MRM, Zacchello F, et al. Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxy-acyl-coenzyme A dehydrogenase deficiency. J Pediatr 1991;118:744-6.
16. Dionisi-Vici C, Bertini E, Burlina A, Garavaglia A, Hale DE, Bartuli A, et al. Neuromuscular involvement in two unrelated children with long-chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) deficiency. Pediatr Res 1990;28: 305.
17. Hale DE, Thorphe C, Braat K, Wright JH, Roe CR, Coates PM, et al. The L-3-hydroxyacyl-CoA dehydrogenase deficiency. In: Tanaka K, Coates PM, eds. Fatty acid oxidation, clinical, biochemical and molecular aspects. New York: Alan R Liss, 1990:503-10.
18. Ylst L, Wanders RJA, 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;1215:347-50.
19. Poll-The BT, Billette de Villemeur T, Abitbol M, Dufier JL, Saudubray JM. Metabolic pigmentary retinopathies: diagnosis and therapeutic attempts. Eur J Pediatr 1992;151:2-11.
20. von Döbeln U, Nyberg G, Hagenfeldt L. Clinical symptoms and dietary treatment of 3-hydroxyacyl-CoA-dehydrogenase deficiency. Proceedings of the VI th International congress Inborn Errors of Metabolism, Milan, Italy, 27-31 May 1994:239.
21. Moore A. Inherited retinal dystrophies. In: Taylor D, ed. Pediatric ophthalmology. Cambridge: Blackwell Scientific, 1990:376-103.
22. Stanescu B, Michiels J, Lyon G. Electroretinography (ERG) and hereditary transmission in neurologic heredodegenerative diseases. Birth Defects Original Article Series 1982;18:255-62.