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Mass spectrometric identification of 2‐hydroxy‐sebacic acid in the urines of patients with neonatal adrenoleukodystrophy and zellweger syndrome
Author(s) -
Rocchiccioli F.,
Cartier P. H.,
Aubourg P.,
Bougnères P. F.
Publication year - 1986
Publication title -
biomedical and environmental mass spectrometry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.475
H-Index - 121
eISSN - 1096-9888
pISSN - 0887-6134
DOI - 10.1002/bms.1200130609
Subject(s) - zellweger syndrome , chemistry , adrenoleukodystrophy , sebacic acid , peroxisomal disorder , peroxisome , biochemistry , organic chemistry , gene
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.