Rare Diseases Symptoms Automatic Extraction

Increase of ceramide monohexoside and dipalmitoyl glycerophospholipids in the brain of Zellweger syndrome.

[zellweger syndrome]

The lipid composition and molecular species of phospholipids were examined in the brain of a patient with Zellweger syndrome (ZS), and were compared with those of control infants. In the cerebral gray matter of the ZS patient, the amounts of ceramide monohexoside and cholesterol ester were larger than those of controls. By contrast, the amount of ceramide monohexoside in the white matter was smaller in the ZS patient than that in the age-matched control. Although the amount of phosphatidylcholine (PC) plus phosphatidylserine (PS) was the same, dipalmitoyl PC and PS were increased in both the gray and white matter of the ZS cerebrum. These alterations in the molecular species of brain lipids may play crucial roles in the pathogenesis of ZS.

Diseases presenting "white matter" symptom

  • 22q11.2 deletion syndrome
  • adrenomyeloneuropathy
  • alexander disease
  • cadasil
  • canavan disease
  • classical phenylketonuria
  • cushing syndrome
  • gm1 gangliosidosis
  • hereditary cerebral hemorrhage with amyloidosis
  • homocystinuria without methylmalonic aciduria
  • kabuki syndrome
  • kallmann syndrome
  • krabbe disease
  • neonatal adrenoleukodystrophy
  • proteus syndrome
  • pyruvate dehydrogenase deficiency
  • sneddon syndrome
  • wiskott-aldrich syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

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