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Related Experiment Videos

Krabbe disease in monozygotic triplets.

H A Arroyo1, J Grippo, A Taratuto

  • 1Neurology Unit, Ricardo Gutierrez Children's Hospital, Buenos Aires, Argentina.

Developmental Medicine and Child Neurology
|December 1, 1991
PubMed
Summary

This study details an exceptionally rare case of monozygotic triplets diagnosed with globoid cell leukodystrophy, also known as Krabbe disease. All affected infants exhibited early-onset symptoms and succumbed within the first 41 months of life.

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Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Globoid cell leukodystrophy (Krabbe disease) is a rare lysosomal storage disorder.
  • It is caused by a deficiency in the enzyme beta-galactocerebrosidase.
  • Monozygotic twinning is a rare occurrence, making multiple affected siblings even rarer.