Mucopolysaccharidosis II (MPS II) in a free-living kaka (nestor meridionalis) in New Zealand

Robert D. Jolly, Stuart A. Hunter, Maurice R. Alley, Barbara M. King, Adeline A. Lau, Paul J. Trim, Marten F. Snel, Kim M. Hemsley

Research output: Contribution to journalArticlepeer-review

Abstract

A lysosomal storage disease, identified as a mucopolysaccharidosis (MPS), was diagnosed in a free-living Kaka (Nestor meridionalis), an endemic New Zealand parrot, which exhibited weakness, incoordination, and seizures. Histopathology showed typical colloid-like cytoplasmic inclusions in Purkinje cells and many other neurons throughout the brain. Electron microscopy revealed that storage bodies contained a variety of linear, curved, or circular membranous profiles and electron-dense bodies. Because the bird came from a small isolated population of Kaka in the northern South Island, a genetic cause was deemed likely. Tandem mass spectrometry revealed increased levels of heparan sulfate-derived disaccharides in the brain and liver compared with tissues from controls. Enzymatic assays documented low levels of iduronate-2-sulfatase activity, which causes a lysosomal storage disorder called MPS type II or Hunter syndrome. A captive breeding program is currently in progress, and the possibility of detecting carriers of this disorder warrants further investigation.

Original languageEnglish
Pages (from-to)884-890
Number of pages7
JournalJournal of Wildlife Diseases
Volume57
Issue number4
DOIs
Publication statusPublished - Oct 2021

Keywords

  • Enzymology
  • Hunter syndrome
  • Lysosomal storage disease
  • Mass spectrometry
  • Mucopolysaccharidosis II
  • Parrot
  • Ultrastructure

Fingerprint

Dive into the research topics of 'Mucopolysaccharidosis II (MPS II) in a free-living kaka (nestor meridionalis) in New Zealand'. Together they form a unique fingerprint.

Cite this