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Hurler's syndrome

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Noun1.Hurler's syndrome - hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation
monogenic disease, monogenic disorder - an inherited disease controlled by a single pair of genes
mucopolysaccharidosis - any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissues


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Hurler's syndrome is the severe form of MPS type1, or mucopolysaccharidoses.
The tot suffers from Hurler's Syndrome, which means he was born with a missing enzyme.
Hurler's syndrome is a rare hereditary condition caused by the lack of an enzyme needed to regulate basic cell functions.
 
 
 
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