Rare Diseases Symptoms Automatic Extraction

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


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 C26:0 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 presenting "adrenal insufficiency" symptom

  • adrenal incidentaloma
  • adrenomyeloneuropathy
  • aromatase deficiency
  • congenital adrenal hyperplasia
  • cushing syndrome
  • familial hypocalciuric hypercalcemia
  • neonatal adrenoleukodystrophy
  • scrub typhus
  • triple a syndrome
  • von hippel-lindau disease
  • x-linked adrenoleukodystrophy

This symptom has already been validated