2. Biology Dictionary
  3. Early childhood-onset progressive leukodystrophy

Early childhood-onset progressive leukodystrophy

Definition:

Early childhood-onset progressive leukodystrophy (PLDECO) is a rare autosomal recessive disorder caused by deficiency of the alkaline ceramidase. Mutations in the ACER3 gene result in inactivation of ACER3, leading to the accumulation of various sphingolipids in blood and probably in brain.

Biomedical Dictionary

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