Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
K. M. Gibson
Kimberly H. Courtwright and Joseph W. Summers Metabolic Disease Center, Baylor University Medical Center and Baylor Research Institute, Dallas, TX, USA
Search for more papers by this authorS. B. Cassidy
Department of Pediatrics, College of Medicine, University of Arizona Health Sciences Center, Tucson, AZ, USA
Search for more papers by this authorL. H. Seaver
Department of Pediatrics, College of Medicine, University of Arizona Health Sciences Center, Tucson, AZ, USA
Search for more papers by this authorR. J. A. Wanders
Department of Pediatrics, Academic Medical Center, University Hospital Amsterdam, The Netherlands
Search for more papers by this authorN. G. Kennaway
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, OR, USA
Search for more papers by this authorG. A. Mitchell
Department of Pediatrics and Biochemistry and Medical Genetics Service, Hopital Sainte-Justine, Montreal, Canada
Search for more papers by this authorR. P. Spark
Departments of Pathology, Tucson Medical Center and College of Medicine, University of Arizona Health Sciences Center, Tucson, AZ, USA
Search for more papers by this authorK. M. Gibson
Kimberly H. Courtwright and Joseph W. Summers Metabolic Disease Center, Baylor University Medical Center and Baylor Research Institute, Dallas, TX, USA
Search for more papers by this authorS. B. Cassidy
Department of Pediatrics, College of Medicine, University of Arizona Health Sciences Center, Tucson, AZ, USA
Search for more papers by this authorL. H. Seaver
Department of Pediatrics, College of Medicine, University of Arizona Health Sciences Center, Tucson, AZ, USA
Search for more papers by this authorR. J. A. Wanders
Department of Pediatrics, Academic Medical Center, University Hospital Amsterdam, The Netherlands
Search for more papers by this authorN. G. Kennaway
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, OR, USA
Search for more papers by this authorG. A. Mitchell
Department of Pediatrics and Biochemistry and Medical Genetics Service, Hopital Sainte-Justine, Montreal, Canada
Search for more papers by this authorR. P. Spark
Departments of Pathology, Tucson Medical Center and College of Medicine, University of Arizona Health Sciences Center, Tucson, AZ, USA
Search for more papers by this author
References
- 1Gibson KM, Breuer J, Kaiser K et al (1988) 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients. J Inher Metab Dis, 11: 76–87.
- 2Gibson KM, Lee CF, Kamali V et al (1990) 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency as detected by radiochemical assay in cell extracts by thin-layer chromatography, and identification of three new cases. Clin Chem, 36: 297–303.
- 3Sweetman L, Hommes FA (1991) Organic acid analysis. In: Techniques in Diagnostic Human Biochemical Genetics, New York: Wiley-Liss, 143–176.
- 4Wanders RJA, Schutgens RBH, Zoeter PHM (1988) 3-Hydroxy-3-methylglutaryl-CoA lyase in human skin fibroblasts: study of its properties and deficient activity in 3-hydroxy-3-methylglutaric aciduria patients using a simple spectrophotometric method. Clin Chim Acta, 171: 95–102.
- 5Wappner RS (1993) Biochemical diagnosis of genetic diseases. Pediatr Ann, 22: 282–297.
10.3928/0090-4481-19930501-08 Google Scholar