Rare Diseases Symptoms Automatic Extraction

A new peroxisomal disorder with fetal and neonatal adrenal insufficiency.

[neonatal adrenoleukodystrophy]

A boy with a new type of adrenoleukodystrophy is described. This was characterised by fetal and neonatal adrenal insufficiency, a neurological picture as seen in neonatal adrenoleukodystrophy, but with a normal number of peroxisomes in the liver and a peroxisomal dysfunction limited to the very long chain fatty acids and pristanic acid.

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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