ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Hum Mol Genet. 2017; 26(18): 3600-3614X-linked adrenoleukodystrophy (ALD) is caused by genetic mutations in the ABCD1 gene coding for a peroxisomal transmembrane protein responsible for the metabolism of very long chain fatty acids (VLCFA). It manifests with a broad phenotype mainly involving the peripheral and central nervous system and the adrenals. However, the exact pa...