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Metabolic storage disease with multiorgan involvement.
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MPS I H:Hurler Syndrome (Hurler-Pfaundler Syndrome; Johnie McL Syndrome;
Thompson Syndrome; Hurler-Scheie Syndrome; Mucopolysaccharide Storage
Disease I; α-L-Iduronidase Deficiency Syndrome; Dysostosis
Multiplex; Dysostotic Idiocy; Hurler-Pfaundler Syndrome; Gargoylism;
Lipochondrodystrophy; Pfaundler-Hurler Syndrome)
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MPS I H/S: Hurler-Scheie Syndrome
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MPS II:Hunter Syndrome (Hurler-Hunter Disease; Mucopolysaccharide Storage
Disease II)
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MPS III: Sanfilippo Syndrome (Mucopolysaccharide Storage Disease III; Heparitinuria;
HS-Mucopolysaccharidosis; Polydystrophic Oligophrenia)
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- Type A: Sanfilippo Syndrome A (Heparan Sulfate Sulfatase Deficiency)
- Type B: Sanfilippo Syndrome B (N-Acetyl-Alpha-D-Glucosaminidase [NAG] Deficiency)
- Type C: Sanfilippo Syndrome C (Acetyl-Coa:Alpha-Glucosamide N-Acetyltransferase
Deficiency)
- Type D: Sanfilippo Syndrome D (N-Acetylglucosamine-6-Sulfate Sulfatase
Deficiency)
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MPS IV:Morquio Syndrome (Mucopolysaccharide Storage Disease IV;
Morquio-Brailsford Syndrome; Morquio-Ullrich Syndrome; Atypical
Chondrodystrophy; Dysotosis Enchondralis Metaepiphysaria;
Eccentrochondrodysplasia; EccentroOsteochondrodysplasia; Familial Osseous
Dystrophy; Hereditary Chondrodysplasia; Hereditary Osteochondrodystrophy;
Hereditary Polytopic Enchondral Dysostosis; Keratansulfaturia; KS
Mucopolysaccharidosis; Osteochondrodystrophia Deformans;
Osteochondrodystrophy; Spondylo-Epiphyseal Dysplasia; Silfverskiold
Syndrome; Morquio-Silfverskiold Syndrome)
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- Type A: Morquio Syndrome A (Galactosamine-4-Sulfatase [GALNS] Deficiency)
- Type B: Morquio Syndrome B (Morquio-Like Syndrome; β-Galactosidase
Deficiency)
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MPS V: Obsolete, previously known Ellis-Sheldon Syndrome
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MPS VI: Maroteaux-Lamy Syndrome (Mucopolysaccharide Storage Disease VI;
Arylsulfatase B [ARSB] Deficiency; N-Acetylgalactosamine-4-Sulfatase
Deficiency; Polydystrophic Dwarfism; Pyknodysostosis of Maroteaux-Lamy)
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MPS VII: Sly Syndrome (Mucopolysaccharide Storage Disease VII; Beta-Glucuronidase
Deficiency; Beta-Glucuronidase Deficiency Mucopolysaccharidosis; GUSB Deficiency)
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NB: DiFerrante Syndrome should not be used as a term to describe MPS VIII
because it has been proved that the author committed fraud based on
observation obtained from only one patient.
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MPS F:Fucosidosis (Mucopolysaccharide Storage Disease F; α-L-Fucosidase [FUCA] Deficiency)
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The incidence of MPS is estimated at 0.04-0.3% of living births
and considered 1.5% of all congenital disorders. The average surviving for these patients is around 20-30 years
and cardiac failure or infections to the gastrointestinal tract cause death. The instability
to the atlantoaxial joint is also implicated as cause of death.
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MPS I and III are autosomal recessive; MPS II
is X-linked with locus at Xq27-q28; MPS IV is autosomal recessive and
located on chromosome 16 long-arm; MPS VI is autosomal recessive; MPS VII is
autosomal recessive, with GUSB locus on long arm of chromosome 7;
fucosidosis is an autosomal recessive trait with occasional parental
consanguinity, located on the short arm of chromosomes 1 and 2.
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MPS I: Inborn error of mucopolysaccharide metabolism with α-l-iduronidase deficiency in leucocytes and fibroblasts and abnormal
mucopolysaccharide incorporation and degradation by fibroblasts. Three types
are recognized. All three types have similar laboratory findings, except the
fibroblasts differ.
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MPS I-H (Hurler Syndrome): Most severe of the three types with coarse (gargyloid) facies, accelerated
growth from infancy followed by progressive decline in ...