Publications by authors named "Suzette Huguenin"
Article Synopsis
- X-linked adrenoleukodystrophy (X-ALD) is a genetic neurodegenerative disorder marked by a mutation in a gene that causes the buildup of very long-chain fatty acids (VLCFAs) and leads to a range of symptoms, from early childhood neuroinflammatory disorders in some males to chronic issues in adult males and female carriers.
- Nearly all male patients show signs of adrenal gland failure, with the age of onset varying and sometimes being the first sign of the disease.
- Studies in fruit flies reveal that knocking down the fly version of the affected gene leads to VLCFA accumulation and other defects, while overexpressing the human version of the gene may inhibit the creation of peroxisomes, suggesting a
Organic acid analysis detects accumulation of organic acids in urine and other body fluids and is a crucial first-tier laboratory test for a broad spectrum of inborn errors of metabolism. It is also frequently ordered as follow-up for a positive newborn screen result, as recommended by American College of Medical Genetics and Genomics newborn screening ACTion sheets and algorithms. The typical assay is performed by gas chromatography-mass spectrometry.
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