EP143: Newborn screening for X-linked adrenoleukodystrophy: Identification of isodisomy of X in an affected female infant

Abstract

X-linked Adrenoleukodystrophy (X-ALD) is a rare genetic disorder due to aberrant peroxisomal metabolism of very long chain fatty acids (VLCFAs). The ABCD1 gene is responsible for shuttling VLCFAs into the peroxisomes. Variants within this gene disrupt this process, causing VLCFAs to accumulate at toxic levels within the cells, specifically in the adrenal cortex and central nervous system. The clinical spectrum of X-ALD varies widely and can include childhood cerebral X-ALD (ccALD), adrenomyeloneuropathy (AMN), adrenal insufficiency (also known as Addison’s disease) and asymptomatic forms.