Treatment of mucopolysaccharidoses

I. E. Hussels, E. A. Eikman, K. R. Kenyon, V. A. McKusick

Research output: Contribution to journalArticlepeer-review

Abstract

Plasma infusions had been advocated as a way of physiologic enzyme replacement in the mucopolysaccharidoses. In order to establish the efficacy of this procedure, plasma infusions were given at a rate of 50 ml per kilogram body weight at intervals varying among patients from 4 to 12 weeks. The parameters tested were the following: liver and spleen size, bone marrow uptake of technetium 99m sulfur colloid, growth, X ray changes of bones, range of motion, corneal clouding, skin and conjunctival storage of mucopolysaccharides evaluated by electron microscopic examination, electroretinogram, IQ and metachromatic staining of peripheral leukocytes. The parameters improved or remained stable over the period of observation. It is postulated that results obtained in mucopolysaccharidosis patients might one day be applicable to patients with retinitis pigmentosa.

Original languageEnglish (US)
Pages (from-to)212-225
Number of pages14
JournalBirth Defects: Original Article Series
Volume10
Issue number12
StatePublished - Jan 1 1974

ASJC Scopus subject areas

  • Developmental Biology
  • Genetics(clinical)

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