277.5, mucopolysaccharidosis (all types)
This is the ICD-9 code for the primary diagnosis. For additional detail and codes for related conditions, see MPS I ICD9 ( 55 KB)
The clinical variability among the mucopolysaccharidoses is broad. Historically, individuals with the most severe form of MPS I were classified as having Hurler syndrome, whereas the intermediate form was called Hurler-Scheie syndrome, and the least severe form was designated Scheie syndrome. However, recent nomenclature prefers the terms "severe" MPS I for those previously considered to have Hurler syndrome and "attenuated" MPS I in those previously considered to have Hurler-Scheie or Scheie syndromes.
Some of the manifestations observed in affected individuals include:
- hernias, inguinal and umbilical
- facial features that become coarse over time
- frequent upper airway infections with otitis media
- corneal clouding
- cardiac involvement, valve disease
- progressive skeletal dysplasia (dysostosis multiplex)
- growth delay
- profound neurological involvement (in the severe form only)
The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations.
J Pediatr. 2004;144(5 Suppl):S27-34. PubMed abstract
Staba SL, Escolar ML, Poe M, Kim Y, Martin PL, Szabolcs P, Allison-Thacker J, Wood S, Wenger DA, Rubinstein P, Hopwood JJ,
Krivit W, Kurtzberg J.
Cord-blood transplants from unrelated donors in patients with Hurler's syndrome.
N Engl J Med. 2004;350(19):1960-9. PubMed abstract
Review of bone marrow transplant as a treatment option in individuals with Hurler syndrome.
Wraith EJ, Hopwood JJ, Fuller M, Meikle PJ, Brooks DA.
Laronidase treatment of mucopolysaccharidosis I.
BioDrugs. 2005;19(1):1-7. PubMed abstract
Review of enzyme replacement therapy as a treatment option in MPS I.
Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B ed.
The mucopolysaccharidoses. In The Metabolic and Molecular Basis of Inherited Disease.
8th ed ed. New York: McGraw-Hill, Medical Publishing Division; 2001. 0071163360 http://books.mcgraw-hill.com/getommbid.php?isbn=0071459960&template=om...
|Author:||Pilar L. Magoulas, MS, CGC - 9/2011|
|Reviewing Author:||David Viskochil, MD, PhD - 10/2011|
|Content Last Updated:||11/2011|
The authors listed above are responsible for the overall Mucopolysaccharidosis Type I Module. Authors contributing to individual pages in the module are listed on those pages.
Meikle PJ, Hopwood JJ, Clague AE, Carey WF.
Prevalence of lysosomal storage disorders.
JAMA. 1999;281(3):249-54. PubMed abstract