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-ALD was accompanied by "non-diagnostic" concentrations of plasma very long chain fatty acids. The implications for diagnosis of X-ALD are discussed.
Kennedy
C R
CR
Department of Paediatric Neurology, Southampton General Hospital, UK.
Allen
J T
JT
Fensom
A H
AH
Steinberg
S J
SJ
Wilson
R
R
D000326:Adrenoleukodystrophy / Q000097:blood* / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000517:prevention & control; D002648:Child; D005227:Fatty Acids / Q000097:blood*; D015870:Gene Expression; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008403:Mass Screening / Q000379:methods*; D010641:Phenotype; D012680:Sensitivity and Specificity; D014057:Tomography, X-Ray Computed; D014960:X Chromosome
D005227:Fatty Acids