Expanding Newborn Screening to X-ALD — What Else Might We Find and How Will This Impact Patients?

Описание: X-linked adrenoleukodystrophy (X-ALD) is a genetically inherited disorder characterized by loss of normal peroxisomal function and accumulation of very long chain fatty acids. Roughly 66% of affected males experience adrenocortical insufficiency while 35% develop devastating, progressive brain disease. Early bone marrow transplantation has proven to be an effective therapy for the brain abnormalities. For these reasons, X-ALD is the most recent disease added to the Recommended Uniform Screening Panel for state run newborn screening programs. This talk describes the biochemistry of the disease, diagnostic testing, therapy options and implications for patients by screening newborns for X-ALD.

After viewing this lecture, participants should be able to:
1. Identify three clinical features of X-ALD
2. Describe two challenges to predicting disease symptoms and progression
3. List two therapies for X-ALD

Anna Scott, PhD, co-director, Biochemical Genetics Laboratory, Seattle Children's Hospital

03/29/18

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