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Inborn mucopolysaccharide metabolism disorder with alpha-L-iduronidase deficiency in leukocytes and fibroblasts and abnormal mucopolysaccharide incorporation and degradation by fibroblasts. Three types are recognized. All three types have similar laboratory findings, except that the fibroblasts in MPS-I-H are heat-stable, whereas in MPS-I-S they are heat-labile. Otherwise, the distinction is mainly clPinical. Johnie McL was the patient in whom the syndrome was observed, hence the synonym Johnie McL syndrome.mucopolysaccharidosis (MPS) I-H Synonyms: Hurler syndrome gargoylism) The most severe of the three types with coarse (gargyloid) facies, accelerated growth from infancy followed by progressive decline in the rate of development, mental retardation, dysostosis multiplex, corneal clouding, and death before the age of 10 years because of pneumonia and heart failure. Some symptoms (hernia, macrocephaly, respiratory infections, and limited hip abduction) become apparent early in infancy but the complete clinical picture develops during the second year of life.mucopolysaccharidosis (MPS) I-S Synonyms: Scheie syndrome late Hurler syndrome forme fruste of Hurler syndrome Ullrich-Scheie syndrome Spat-Hurler syndrome A more moderate form which is marked by corneal opacities, clawhand, aortic valve disease, normal stature, mild or absent intellectual impairment, and nearly normal life span, depending on cardiac complications. The condition is seldom recognized during infancy or early childhood.mucopolysaccharidosis (MPS) H/I-S Synonyms: Hurler-Scheie syndrome, phenotype, compound, genetic compound, or syndrome An intermediate form between Hurler and Scheie syndromes, including short stature, dysostosis multiplex, hepatosplenomegaly, corneal clouding, umbilical or inguinal hernia, generally normal mental development with psychotic symptoms later in life, and death by age 25 years. The symptoms usually become apparent by the age of two years. - (Source - Diseases Database)
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