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Mucolipidosis type 3

Orpha number ORPHA577
Synonym(s) Pseudo-Hurler polydystrophy
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10
  • E77.0
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Mucolipidosis type 3 alpha/beta (ML3 alpha/beta) is a lysosomal storage disorder characterized by a progressive slowing of the growth rate in late infancy, stiffness and pain in all large and small joints, gradual coarsening of facial features (full cheeks, depressed nasal bridge, and prominent mouth) and mild or moderate developmental delay. The manifestations of ML3 alpha/beta are similar but milder than those seen in mucolipidosis type II (ML 2; see this term).


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Detailed information

Anesthesia guidelines
  • EN (2011,pdf)
Clinical genetics review
  • EN (2012)
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