Comparison of C26: 0-carnitine and C26: 0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with …

IC Huffnagel, MC van de Beek, AL Showers… - Molecular genetics and …, 2017 - Elsevier
X-linked adrenoleukodystrophy (ALD) is the most common leukodystrophy with a birth
incidence of 1: 14,700 live births. The disease is caused by mutations in ABCD1 and
characterized by very long-chain fatty acids (VLCFA) accumulation. In childhood, male
patients are at high-risk to develop adrenal insufficiency and/or cerebral demyelination.
Timely diagnosis is essential. Untreated adrenal insufficiency can be life-threatening and
hematopoietic stem cell transplantation is curative for cerebral ALD provided the procedure …