Details

Autor(en) / Beteiligte

• Wanders, R. J. A.
• Roermund, C. W. T.
• Lageweg, W.
• Jakobs, B. S.
• Schutgens, R. B. H.
• Nijenhuis, A. A.
• Tager, J. M.

Titel

X‐linked adrenoleukodystrophy: Biochemical diagnosis and enzyme defect

Ist Teil von

• Journal of inherited metabolic disease, 1992-07, Vol.15 (4), p.634-644

Ort / Verlag

Dordrecht: Kluwer Academic Publishers

Erscheinungsjahr

1992

Quelle

MEDLINE

Beschreibungen/Notizen

• Summary 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.