Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: Clinical presentation of thirteen patients

Journal of Pediatrics

Volumn 130, Issue 1, 1997, Pages 67-76

  Tyni, T ^a   Palotie, A ^a   Viinikka, L ^a   Valanne, L ^a   Salo, M K ^a   Von Dobeln, U ^a   Jackson, S ^a   Wanders, R ^a   Venizelos, N ^a   Pihko, H ^a  

^a UNIVERSITY OF HELSINKI AND HELSINKI UNIVERSITY HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE;

ARTICLE; BRAIN ATROPHY; CARDIOMYOPATHY; CHILD; CHOLESTASIS; CLINICAL ARTICLE; CREATININE BLOOD LEVEL; DIET THERAPY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FATTY ACID OXIDATION; FEMALE; GENE MUTATION; HEPATOMEGALY; HUMAN; HYPOGLYCEMIA; INFANT; LIPID METABOLISM; MALE; MUSCLE HYPOTONIA; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; PROGNOSIS;

EID: 0030775662     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(97)70312-3     Document Type: Article

References (41)

1. R Wanders M Duran L IJlst Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase Lancet 2 1989 52 53
2. Y Uchida K Izai T Orii T Hashimoto Novel fatty acid β-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 267 1992 1034 1041
3. K Carpenter RJ Pollitt B Middleton Human liver long-chain 3-hydroxyacyl–coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria Biochem Biophys Res Commun 183 1992 443 448
4. T Kamijo T Aoyama A Komiyama T Hashimoto Structural analysis of cDNAs for subunits of human mitochondrial fatty acid β-oxidation trifunctional protein Biochem Biophys Res Commun 199 1994 818 825
5. JC Brackett HF Sims P Rinaldo Two α subunit donor splice site mutations cause human trifunctional protein deficiency J Clin Invest 95 1995 2076 2082
6. S Jackson R Singh Kler K Bartlett Combined enzyme defect of mitochondrial fatty acid oxidation J Clin Invest 90 1992 1219 1225
7. RJA Wanders L IJlst F Poggi Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid β-oxidation Biochem Biophys Res Commun 188 1992 1139 1145
8. E Bertini C Dionisi-Vici B Garavaglia Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency Eur J Pediatr 151 1992 121 126
9. S Jackson K Bartlett J Land Long-chain 3-hydroxyacyl-coA dehydrogenase deficiency Pediatr Res 29 1991 406 411
10. N Venizelos L IJlst RJA Wanders L Hagenfeldt β-oxidation enzymes in fibroblasts from patients with 3-hydroxydicarboxylic aciduria Pediatr Res 36 1994 111 114
11. L IJlst RJA Wanders S Ushikubo T Kamijo T. Hashimoto 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 1215 1994 347 350
12. L IJlst S Ushikubo T Kamijo Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype J Inher Metab Dis 18 1995 241 244
13. RJA Wanders L. IJlst Long-chain 3-hydroxyacyl-CoA dehydrogenase in leukocytes and chorionic villus fibroblasts: potential for pre- and postnatal diagnosis J Inher Metab Dis 15 1992 356 358
14. U von Döbeln N Venizelos M Westgren L Hagenfeldt Long-chain 3-hydroxyacyl-CoA dehydrogenase in chorionic villi, fetal liver and fibroblasts and prenatal diagnosis of 3-hydroxyacyl-CoA dehydrogenase deficiency J Inher Metab Dis 17 1994 185 188
15. C Dionisi Vici A Burlina E Bertini Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency J Pediatr 118 1991 744 746
16. M Duran R Wanders J deJager 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 150 1991 190 195
17. D Hale C Thorpe K Braat The L -3-hydroxyacyl-CoA dehydrogenase deficiency K Tanaka PM Coates Fatty acid oxidation: clinical, biochemical and molecular aspects 1990 Alan R. Liss New York 503 510
18. R Moore JFT Glasgow MA Bingham Long-chain 3-hydroxyacyl–coenzyme A dehydrogenase deficiency: diagnosis, plasma carnitine fractions and management in a further patient Eur J Pediatr 152 1993 433 436
19. H Przyrembel C Jakobs L IJlst J De Klerk R. Wanders Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency J Inher Metab Dis 14 1991 674 680
20. A Ribes E Riudor C Navarro M Boronat M Marti DE. Hale Fatal outcome in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency J Inher Metab Dis 15 1992 278 279
21. AC Sewell SW Bender S Wirth H Münterfering L IJlst RJA Wanders Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder Eur J Pediatr 153 1994 745 750
22. WR Treem P Rinaldo DE Hale Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl–coenzyme A dehydrogenase deficiency Hepatology 19 1994 339 345
23. L van Maldergem A Bachy D Tuerlinckx Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency presenting as hepatic cirrhosis in two siblings VIth International Congress of Inborn Errors of Metabolism, Milan, Italy 1994
24. RJA Wanders L IJlst AH van Gennip Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid β-oxidation J Inher Metab Dis 13 1990 311 314
25. R Wanders L IJlst M Duran Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: different clinical expression in three unrelated patients J Inher Metab Dis 14 1991 325 328
26. JS Fryburg JP Pelegano MJ Bennett EM. Bebin Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome Am J Med Gen 52 1994 97 102
27. L Hagenfeldt N Venizelos U von Döbeln Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency J Inher Metab Dis 18 1995 245 248
28. S Jackson R Singh Kler K Bartlett Combined defect of long-chain 3-hydroxyacyl-CoA dehydrogenase, 2-enoyl-CoA hydratase and 3-oxoacyl-CoA thiolase PM Coates K Tanaka New developments in fatty acid oxidation. 1992 Wiley-Liss New York 327 337
29. CR Roe PM. Coates Mitochondrial fatty acid oxidation disorders 7th ed CR Scriver AL Beaudet WS Sly D Valle The metabolic and molecular bases of inherited disease. 1995 McGraw-Hill New York 1501 1534
30. U von Döbeln G Nyberg L Hagenfeldt Symptoms and dietary management of 3-hydroxyacyl-CoA-dehydrogenase deficiency. VI International Congress of Inborn Errors of Metabolism, Italy, Milan 1994
31. H Mikkola M Syrjälä V Rasi Deficiency in the α-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects of transcript levels Blood 84 1994 517 525
32. A Syvänen K Aalto-Setälä L Harju K Kontula H Söderlund A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E Genomics 8 1990 684 690
33. L Viinikka M Kärkkäinen P Linko J Kärkkäinen Computer-assisted measurement of urinary organic acids by gas chromatography Clin Biochem Rev 14 1993 304
34. A Bhala SM Willi P Rinaldo MJ Bennett E Schmidt-Sommerfeld DE Hale Clinical and biochemical characterization of short-chain acyl–coenzyme A dehydrogenase deficiency J Pediatr 126 1995 910 915
35. AK Iafolla RJJ Thompson CR. Roe Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children J Pediatr 124 1994 409 415
36. T Aoyama M Souri S Ushikubo Purification of human very-long-chain acyl–coenzyme A dehydrogenase and characterization of its deficiency in seven patients J Clin Invest 95 1995 2465 2473
37. HF Sims JC Brackett CK Powell The molecular basis of pediatric long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy Proc Natl Acad Sci USA 92 1995 841 845
38. B Wilcken K-C Leung J Hammond R Kamath JV Leonard Pregnancy and fetal long-chain 3-hydroxyacyl–coenzyme A dehydrogenase deficiency Lancet 341 1993 407 408
39. J Christodoulou J Hoare J Hammond W Ching Ip B Wilcken Neonatal onset of medium-chain acyl–coenzyme A dehydrogenase deficiency with confusing biochemical features J Pediatr 126 1995 65 68
40. DB Dawson L Waber DE Hale MJ Bennett Transient organic aciduria and persistent lactic acidemia in a patient with short-chain acyl–coenzyme A dehydrogenase deficiency J Pediatr 126 1995 69 71
41. RJ Pollitt H Losty A. Westwood 3-Hydroxydicarboxylic aciduria: a distinctive type of intermittent dicarboxylic aciduria of possible diagnostic significance J Inher Metab Dis 10 1987 266