Myelin bodies in urine sediment in hemizygotes with Anderson-Fabry disease

Ultrastruct Pathol. 1983 Sep-Oct;5(2-3):123-7. doi: 10.3109/01913128309141831.

Abstract

Urine sediment of a hemizygous patient with Anderson-Fabry disease contained characteristic myelin bodies on ultrastructural examination. Such examination offers an alternative, noninvasive, relatively simple means of establishing early diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Fabry Disease / genetics
  • Fabry Disease / urine*
  • Genotype
  • Humans
  • Inclusion Bodies / ultrastructure*
  • Lysosomes / ultrastructure*
  • Male
  • Microscopy, Electron
  • Myelin Proteins / urine*

Substances

  • Myelin Proteins