X-linked adrenoleukodystrophy: Biochemical diagnosis and enzyme defect
R. J. A. Wanders
Department of Pediatrics, University Hospital of Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ The Netherlands
Deparmtent of Clinical Biochemistry, University Hospital of Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ The Netherlands
Search for more papers by this authorC. W. T. van Roermund
Deparmtent of Clinical Biochemistry, University Hospital of Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ The Netherlands
Search for more papers by this authorW. Lageweg
Department of Pediatrics, University Hospital of Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ The Netherlands
Deparmtent of Clinical Biochemistry, University Hospital of Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ The Netherlands
Search for more papers by this authorB. S. Jakobs
Deparmtent of Clinical Biochemistry, University Hospital of Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ The Netherlands
Search for more papers by this authorR. B. H. Schutgens
Department of Pediatrics, University Hospital of Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ The Netherlands
Deparmtent of Clinical Biochemistry, University Hospital of Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ The Netherlands
Search for more papers by this authorA. A. Nijenhuis
Deparmtent of Clinical Biochemistry, University Hospital of Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ The Netherlands
Search for more papers by this authorJ. M. Tager
Department of Biochemistry, University Hospital of Amsterdam, Meibergdreef 9, Ansterdam, 1105 AZ The Netherlands
Search for more papers by this authorR. J. A. Wanders
Department of Pediatrics, University Hospital of Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ The Netherlands
Deparmtent of Clinical Biochemistry, University Hospital of Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ The Netherlands
Search for more papers by this authorC. W. T. van Roermund
Deparmtent of Clinical Biochemistry, University Hospital of Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ The Netherlands
Search for more papers by this authorW. Lageweg
Department of Pediatrics, University Hospital of Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ The Netherlands
Deparmtent of Clinical Biochemistry, University Hospital of Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ The Netherlands
Search for more papers by this authorB. S. Jakobs
Deparmtent of Clinical Biochemistry, University Hospital of Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ The Netherlands
Search for more papers by this authorR. B. H. Schutgens
Department of Pediatrics, University Hospital of Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ The Netherlands
Deparmtent of Clinical Biochemistry, University Hospital of Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ The Netherlands
Search for more papers by this authorA. A. Nijenhuis
Deparmtent of Clinical Biochemistry, University Hospital of Amsterdam, Meibergdreef 9, Amsterdam, 1105 AZ The Netherlands
Search for more papers by this authorJ. M. Tager
Department of Biochemistry, University Hospital of Amsterdam, Meibergdreef 9, Ansterdam, 1105 AZ The Netherlands
Search for more papers by this authorSummary
The adrenoleukodystrophies refer to three genetically distinct disorders all characterized by the accumulation of very long-chain fatty acids. In this paper we will review the biochemical aspects of these leukodystrophies with particular emphasis on the methods used to measure very long-chain fatty acid levels in plasma and their reliability. Furthermore, we will concentrate on the primary defect in the X-linked form of adrenoleukodystrophy.
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