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Metabolic storage disease with multiorgan involvement.


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)

MPS I S: Scheie Syndrome

MPS I H/S: Hurler-Scheie Syndrome

MPS II:Hunter Syndrome (Hurler-Hunter Disease; Mucopolysaccharide Storage Disease II)

MPS III: Sanfilippo Syndrome (Mucopolysaccharide Storage Disease III; Heparitinuria; HS-Mucopolysaccharidosis; Polydystrophic Oligophrenia)

  • 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)

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)

  • Type A: Morquio Syndrome A (Galactosamine-4-Sulfatase [GALNS] Deficiency)
  • Type B: Morquio Syndrome B (Morquio-Like Syndrome; β-Galactosidase Deficiency)

MPS V: Obsolete, previously known Ellis-Sheldon Syndrome

MPS VI: Maroteaux-Lamy Syndrome (Mucopolysaccharide Storage Disease VI; Arylsulfatase B [ARSB] Deficiency; N-Acetylgalactosamine-4-Sulfatase Deficiency; Polydystrophic Dwarfism; Pyknodysostosis of Maroteaux-Lamy)

MPS VII: Sly Syndrome (Mucopolysaccharide Storage Disease VII; Beta-Glucuronidase Deficiency; Beta-Glucuronidase Deficiency Mucopolysaccharidosis; GUSB Deficiency)

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.

MPS F:Fucosidosis (Mucopolysaccharide Storage Disease F; α-L-Fucosidase [FUCA] Deficiency)

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.

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.

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.

MPS I-H (Hurler Syndrome): Most severe of the three types with coarse (gargyloid) facies, accelerated growth from infancy followed by progressive decline in ...

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