Premium
Medium chain dicarboxylic and hydroxydicarboxylic aciduria in a case of neonatal adrenoleukodystrophy
Author(s) -
Pampols T.,
Ribes A.,
Pineda M.,
Ballester A.,
FernándezAlvarez E.,
Moser A. E.,
Moser H. W.
Publication year - 1987
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01811409
Subject(s) - adrenoleukodystrophy , medicine , human genetics , pediatrics , metabolic disease , endocrinology , biology , genetics , peroxisome , receptor , gene
Impressive advances in the knowledge of peroxisomal disease have been made during the last three years, including biochemical possibilities of postnatal and prenatal diagnosis. In spite of many important contributions to the understanding of the peroxisomal role in cellular metabolism, the primary lesion in many patients remains unknown, and the classification of some clinical presentations is not always clearcut. Therefore, in such infrequent patients, the study of additional biochemical markers that could reflect a peroxisomal impairment must be stressed (Schutgens et al., 1986). A recent report suggests that urinary excretion of some anomalous organic acids is in this category (Rocchiccioli et al., 1986). The case reported in this communication is supportive of this supposition.