Article
Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy.
Scientific reports - 15 Sept 2020
Rattay Tim W, Rautenberg Maren, Söhn Anne S, Hengel Holger, Traschütz Andreas, Röben Benjamin, Hayer Stefanie N, Schüle Rebecca, Wiethoff Sarah, Zeltner Lena, Haack Tobias B, Cegan Alexander, Schöls Ludger, Schleicher Erwin, Peter Andreas
Abstract excerpt
X-linked Adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene resulting in the accumulation of very long chain fatty acids (VLCFA). X-ALD is the most common peroxisomal disorder with adult patients (male and female) presenting with progressive spastic paraparesis with bladder disturbance, sensory ataxia with impaired vibration sense, and leg pain. 80% of male X-ALD patients have an adrenal...
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