The expansion of national newborn screening (NBS) programmes has provided significant
benefits in the diagnosis and early treatment of several rare, heritable conditions, preventing …

X-linked adrenoleukodystrophy (ALD) is an inherited progressive neurometabolic disease
caused by mutations in the ABCD1 gene and the accumulation of very long-chain fatty acids …

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

The progressive neurometabolic disorder X-linked adrenoleukodystrophy (ALD) is caused
by pathogenic variants in the ABCD1 gene, which encodes the peroxisomal ATP-binding …

Peroxisomes are subcellular organelles that are involved in various important physiological
processes such as the oxidation of fatty acids and the biosynthesis of bile acids and …

Males with X‐linked adrenoleukodystrophy (ALD) are at high risk for developing adrenal
insufficiency and/or progressive leukodystrophy (cerebral ALD) at an early age. Pathogenic …

Newborn screening was established over 50 years ago to identify cases of disorders that
were serious, urgent, and treatable, mirroring the criteria of Wilson and Jungner. In the last …

Introduction X-linked adrenoleukodystrophy (X-ALD) is the most common inherited
peroxisomal disorder caused by variants in the ABCD1 gene. The main phenotypes …

X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. It results
from pathogenic variants in ABCD1, which encodes the peroxisomal very-long-chain fatty …

Neonatal bloodspot screening (NBS) aims to detect treatable disorders in newborns. The
number of conditions included in the screening is expanding through technological and …