X-linked adrenoleukodystrophy (X-ALD) is a common hereditary metabolism disorder characterized by impaired peroxisomal beta-oxidation, subsequent accumulation of very long-chain fatty acids (> 22 carbon atoms), accumulation of saturated very long chain fatty acids and mutations in the ABCD1 gene. It is a progressive metabolic condition that affects the adrenal glands and nervous system of males. Although that condition is variable in the age of onset and presentation in families, X-ALD does present in characteristic phenotypes including a devastating childhood form affecting 35% of boys with this genetic condition.
Human adrenal development is a complex and relatively poorly understood process. However, significant insight into some of the mechanisms regulating adrenal development and function is being obtained through the analysis of individuals and families with adrenal hypoplasia.
Clinical presentations for adrenoleukodystrophy include inability to manipulate acquired knowledge, important changes of personality such as apathy, inertia, or depression and slowing of thought processes (also known as bradyphrenia). The majority of males with X-ALD will also develop adrenal insufficiency, which may result in crisis. Early detection is desirable in order to prevent morbidity from this condition. Newly developed tandem mass spectroscopy method allows this to be done during newborn screening for other genetic disorder.
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