Adrenoleukodystrophy (ALD) is a rare X‐linked disease caused by a mutation of the
peroxisomal ABCD1 gene. This review summarizes our current understanding of the …

Peroxisomes are dynamic organelles that play an essential role in a variety of cellular
catabolic and anabolic metabolic pathways, including fatty acid alpha-and beta-oxidation …

Pathogenic variants in the ABCD1 gene cause adrenoleukodystrophy (ALD), a progressive
metabolic disorder characterized by 3 core clinical syndromes: a slowly progressive …

X-Linked adrenoleukodystrophy (ALD) is a peroxisomal metabolic disorder with a highly
complex clinical presentation. ALD is caused by mutations in the ABCD1 gene, which leads …

X-inactivation is a well-established dosage compensation mechanism ensuring that X-
chromosomal genes are expressed at comparable levels in males and females. Skewed X …

Peroxisomes contain numerous enzymatic activities that are important for mammalian
physiology. Patients lacking either all peroxisomal functions or a single enzyme or …

Abstract X-linked adrenoleukodystrophy (X-ALD) is a puzzling inborn error of metabolism
with a strikingly heterogeneous clinical spectrum. All patients have mutations in the ABCD1 …

Introduction Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder with an
incidence of 1 in 14–17,000 male births, caused by pathogenic variants within the ABCD1 …

Adrenoleukodystrophy (ALD) is a rare X-linked disorder of peroxisomal oxidation due to
mutations in ABCD1. It is a progressive condition with a variable clinical spectrum that …

X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene
encoding a peroxisomal ABC transporter. In this review, we compare estimates of incidence …