X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acids

X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acids

Measurement of plasma very long chain fatty acids is widely recognised as a sensitive screening test for X-linked adrenoleukodystrophy (X-ALD). This test has particular importance because of the highly variable clinical expression of X-ALD. In this affected family the progressive childhood form of X...

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Veröffentlicht in:Journal of neurology, neurosurgery and psychiatry neurosurgery and psychiatry, 1994-06, Vol.57 (6), p.759-761
Hauptverfasser: Kennedy, C R, Allen, J T, Fensom, A H, Steinberg, S J, Wilson, R
Format: Artikel
Sprache:eng
Schlagworte:
Adrenoleukodystrophy - blood
Adrenoleukodystrophy - diagnosis
Adrenoleukodystrophy - epidemiology
Adrenoleukodystrophy - genetics
Adrenoleukodystrophy - prevention & control
Biological and medical sciences
Child
Errors of metabolism
Fatty Acids - blood
Gene Expression
Genetic Linkage
Humans
Lipids (lysosomal enzyme disorders, storage diseases)
Male
Mass Screening - methods
Medical sciences
Metabolic diseases
Phenotype
Sensitivity and Specificity
Tomography, X-Ray Computed
X Chromosome
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Zusammenfassung:Measurement of plasma very long chain fatty acids is widely recognised as a sensitive screening test for X-linked adrenoleukodystrophy (X-ALD). This test has particular importance because of the highly variable clinical expression of X-ALD. In this affected family the progressive childhood form of X-ALD was accompanied by "non-diagnostic" concentrations of plasma very long chain fatty acids. The implications for diagnosis of X-ALD are discussed.
ISSN:0022-3050
1468-330X
DOI:10.1136/jnnp.57.6.759