Home > D. Systemic pathology > Genetic and developmental anomalies > Genetic metabolic diseases > Hurler disease
Hurler disease
Friday 23 October 2009
Digital case
Case 202 (HPC:202) : Lung in Hurler disease
Definition: Deficiency of alpha-L-iduronidase (MPS1) can result in a wide range of phenotypic involvement with 3 major recognized clinical entities: Hurler disease (MPS1H) Scheie disease (MPS1S) (MIM.607016) Hurler-Scheie disease (MPS1H/S) syndromes.
Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the MPS I clinical spectrum, respectively, and the Hurler-Scheie syndrome is intermediate in phenotypic expression.
MPS1 is more frequent than MPS2 (Hunter syndrome) (MIM.309900), which has no corneal clouding and pursues a slower course.
Synospis
cardiopulmonary anomalies pulmonary Hurler disease
- progressive respiratory failure
- severe pulmonary arterial hypertension
- upper airway obstruction
- interstitial lung disease
See also
genetic metabolic diseases (inborn errors of metabolism)