Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy.
A combined genotype of polymorphisms of methionine metabolism has been associated with CNS demyelination in methotrexate-treated patients. Within a sample of 86 patients with X-linked adrenoleukodystrophy, this genotype was overrepresented in a subgroup of 15 patients with adrenomyeloneuropathy (AMN) with CNS demyelination (adrenoleukomyeloneuropathy) in comparison to 49 AMN patients without CNS demyelination ("pure" AMN; p = 0.002), suggesting that methionine metabolism might contribute to the phenotypic variability in adrenoleukodystrophy.
Linnebank
M
M
Department of Neurology, University Hospital Bonn, Bonn, Germany. michael.linnebank@ukb.uni-bonn.de
Kemp
S
S
Wanders
R J A
RJ
Kleijer
W J
WJ
van der Sterre
M L T
ML
Gärtner
J
J
Fliessbach
K
K
Semmler
A
A
Sokolowski
P
P
Köhler
W
W
Schlegel
U
U
Schmidt
S
S
Klockgether
T
T
Wüllner
U
U
D000293:Adolescent; D000326:Adrenoleukodystrophy / Q000145:classification / Q000235:genetics* / Q000378:metabolism*; D002648:Child; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008297:Male; D008715:Methionine / Q000378:metabolism*; D010641:Phenotype; D011110:Polymorphism, Genetic
D008715:Methionine