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Hurler disease

type I mucolipidose, MPS I, alpha-L-iduronidase deficiency, Hurler-Scheie syndrome, Hurler's disease

 

Synopsis

-  subarachnoid cysts
-  dwarfism
-  hypertrichosis
-  scaphocephaly
-  macrocephaly
-  coarse facies
-  corneal opacities
-  enlarged tongue
-  short neck
-  alvular heart disease
-  coronary artery disease
-  GI anomalies
-  liver anomalies
-  spleen anomalies
-  inguinal hernia
-  umbilical hernia
-  kyphosis
-  thoracolumbar gibbus
-  hip flexion contractures
-  coxa vara
-  joint stiffness
-  brachydactyly
-  claw hand
-  diaphyseal widening
-  neurological anomalies

Biology :

-  Alpha-L-iduronidase deficiency in fibroblasts, amniocytes and white blood cells
-  Dermatan sulfaturia
-  Heparan sulfaturia
-  Metachromasia of white blood cells and fibroblasts

-  MIM.252800


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