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Carrier identification of X‐linked adrenoleukodystrophy by measurement of very long chain fatty acids and lignoceric acid oxidation
Author(s) -
Inoue Kyoko,
Suzuki Yasuyuki,
Yajima Shigehiro,
Shimozawa Nobuyuki,
Tomatsu Shunji,
Orii Tadao,
Kondo Naomi
Publication year - 1996
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1996.tb02386.x
Subject(s) - adrenoleukodystrophy , chemistry , biochemistry , gene , peroxisome
Because identification of carriers of X‐linked adrenoleukodystrophy (ALD) results in 5–15% false negatives with very long chain fatty acids (VLCFA) assay in plasma, and mutation analysis of the ALD gene is not always practical, we studied whether the analysis of plasma VLCFA combined with lignoceric acid oxidation study in fibroblasts could improve the rate of carrier detection. Lignoceric acid oxidation was abnormal in 19 out of 19 patients (ALD or adrenomyeloneuropathy) and in three out of three obligate heterozygous women. Among ten women at risk of being a carrier, three women who had normal plasma VLCFA had abnormal lignoceric acid oxidation in fibroblasts. These data suggest that this combined biochemical procedure may help to improve carrier detection in families when the ALD gene mutation has not been identified.