Newborn Screening for Adrenoleukodystrophy

@article{Raymond2012NewbornSF,
  title={Newborn Screening for Adrenoleukodystrophy},
  author={G V Raymond and Richard O Jones and Ann Moser},
  journal={Molecular Diagnosis \& Therapy},
  year={2012},
  volume={11},
  pages={381-384}
}
X-Linked adrenoleukodystrophy (X-ALD) is a progressive metabolic condition affecting the adrenal glands and nervous system of males. Although variable in the age of onset and presentation in families, X-ALD does present in characteristic phenotypes including a devastating childhood form that affects 35% of boys with this genetic condition. 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… 
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References

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TLDR
Axonal degeneration and cerebral demyelination emerge in X‐ALD independently of each other, which may have implications for the phenotype classification, the search for modifying factors, and the development and evaluation of new therapies.
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TLDR
In this single-arm study, hexacosanoic acid reduction by Lorenzo's oil was associated with reduced risk of developing MRI abnormalities, and is recommended in asymptomatic boys with X-linked adrenoleukodystophy who have normal brain MRI results.
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TLDR
There is a strong interest in prenatal, presymptomatic, and carrier testing and a need for genetic counselors to provide information about these available tests and X-linked inheritance.
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TLDR
It is concluded that boys with early-stage disease benefit from HCT, whereas boys with advanced disease may be candidates for experimental therapies.
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TLDR
It is concluded that adrenoleucodystrophy affects deeply RBC membranes, with an increase in total lipid, lipid‐protein ratio, membrane viscosity and in the Na+/K+‐dependent ATPase.
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TLDR
The increased C26:0/C22:0 ratio in the fatty acids of sphingolipid fraction in dried blood spots on filter paper from the patient with adrenoleukodystrophy is demonstrated and is useful in the diagnosis of the patient and screening for the families known to be at risk.
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TLDR
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