Abstract
We have developped a gas chromatographic-mass spectrometric method allowing the precise measurement of very long chain fatty acids (VLCFA) from microliter samples of plasma (J. Lip.Res., 1985,26). It allowed the early identification of 7 patients with NALD, who had a very distinctive pattern of plasma VLCFA when compared to controls as well as to children with childhood adrenoleukodystrophy (ALD):
In the absence of clinical signs, morning plasma cortisol was 6,9 ± 1,8 μg/dl (N=9,9 ± 2,9*),unresponsive to synacthen in the 2 patients tested, and ACTH was 121 ± 20 pg/ml (N < 90*). Although adrenal lesions have been described at autopsy in NALD,partial primary glucocorticoid deficiency was yet unrecognized, because of the absence of endocrine signs and uncertain identification of NALD before their early death. Thus NALD and ALD, two different diseases in terms of inheritance, neurological syndrome and VLCFA profiles nevertheless share the elevation of plasma C26 fatty acids and adrenal dysfunction. * p < 0,05.
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Aubourg, P., Bougnères, P., Rocchicioli, F. et al. 130 ADRENAL INSUFFICIENCY IN INFANTS WITH NEONATAL ADRENOLEUKODYSTROPHY (NALD). Pediatr Res 19, 625 (1985). https://doi.org/10.1203/00006450-198506000-00150
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DOI: https://doi.org/10.1203/00006450-198506000-00150