Mass spectrometric identification of 2-hydroxy-sebacic acid in the urines of patients with neonatal adrenoleukodystrophy and zellweger syndrome

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Abstract
The urines of children with neonatal adrenoleukodystrophy and Zellweger syndrome contained an excess of unusual even‐ and odd‐numbered dicarboxylic acids with a chain length of from 5 to 15 carbon atoms, as well as 2‐hydroxy‐compounds, including 2‐hydroxy‐isocaproate, 2‐hydroxy‐glutarate and 2‐hydroxy‐sebacate. The latter product, not previously found in metabolic diseases, appears as an additional useful marker of these peroxisomal disorders.

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