Newborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible.

[adrenomyeloneuropathy]

X-linked adrenoleukodystrophy (ALD ) is characterized by adrenal insufficiency and neurologic involvement with onset at variable ages . Plasma very long chain fatty acids are elevated in ALD ; even in asymptomatic patients . We demonstrated previously that liquid chromatography tandem mass spectrometry measuring C 2 6 :0 lysophosphatidylcholine reliably identifies affected males . We prospectively applied this method to 4689 newborn blood spot samples ; no false positives were observed . We show that high throughput neonatal screening for ALD is methodologically feasible .

Diseases
Validation

Diseases presenting "very long chain fatty acids" symptom

adrenomyeloneuropathy

gm1 gangliosidosis

krabbe disease

lamellar ichthyosis

neonatal adrenoleukodystrophy

pyruvate dehydrogenase deficiency

triple a syndrome

von hippel-lindau disease

x-linked adrenoleukodystrophy

zellweger syndrome

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