Dysostosis Multiplex in Human Mucopolysaccharidosis Type 1 H and in Animal Models of the Disease

Christiane S. Hampe, Lynda E. Polgreen, Troy C. Lund, R. Scott McIvor

Research output: Contribution to journalArticlepeer-review

Abstract

Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder, caused by deficiency of α-L-iduronidase, and consequent accumulation of dermatan and heparan sulfates. Severity of the disease ranges from mild (Scheie) to moderate (Hurler-Scheie) to severe (Hurler or MPS-IH). A prominent clinical manifestation of MPS-IH is dysostosis multiplex, a constellation of skeletal abnormalities. We performed a retrospective review comparing manifestations of dysostosis multiplex in patients presenting with MPSIH and relevant animal models. Dog, cat and mouse models of MPS-IH are extensively studied to better understand the pathology of the disease. While all animal models display certain characteristics of human MPSIH, species-specific manifestations must be considered when evaluating skeletal abnormalities. Moreover, some skeletal abnormalities emerge at species-specific developmental stages, e.g. thoracolumbar kyphosis is an early manifestation in humans, while it appears late in the mouse model. The choice of the appropriate diagnostic test is of importance to avoid misleading conclusions.

Original languageEnglish (US)
Pages (from-to)317-326
Number of pages10
JournalPediatric endocrinology reviews : PER
Volume17
Issue number4
DOIs
StatePublished - Aug 1 2020

Keywords

  • Animal models
  • Bone remodeling biomarkers
  • Dysostosis multiplex
  • Mucopolysaccharidosis type I
  • α-L-iduronidase

PubMed: MeSH publication types

  • Journal Article

Fingerprint Dive into the research topics of 'Dysostosis Multiplex in Human Mucopolysaccharidosis Type 1 H and in Animal Models of the Disease'. Together they form a unique fingerprint.

Cite this