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  • Type Common Name Gene Locus Deficient Enzyme GAG Symptoms IH Ih/S IS

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    Erick Roa Gandica
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    This document summarizes 9 types of mucopolysaccharidoses (MPS), which are lysosomal storage diseases caused by the deficiency of specific enzymes involved in the breakdown of glycosaminoglycans. For each type of MPS, it lists the common name, deficient enzyme, gene locus, accumulated glycosaminoglycan, and associated symptoms. The types include Hurler syndrome, Hurler-Scheie syndrome, Scheie syndrome, Hunter syndrome, and several types of Sanfilippo syndrome and Morquio syndrome. The symptoms vary between types but can include developmental delay, coarse facial features, heart issues, liver and spleen enlargement, skeletal dysplasia, and short stature, among others.

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    mucopolisacaridosis

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    This document summarizes 9 types of mucopolysaccharidoses (MPS), which are lysosomal storage diseases caused by the deficiency of specific enzymes involved in the breakdown of glycosaminoglycans. For each type of MPS, it lists the common name, deficient enzyme, gene locus, accumulated glycosaminoglycan, and associated symptoms. The types include Hurler syndrome, Hurler-Scheie syndrome, Scheie syndrome, Hunter syndrome, and several types of Sanfilippo syndrome and Morquio syndrome. The symptoms vary between types but can include developmental delay, coarse facial features, heart issues, liver and spleen enlargement, skeletal dysplasia, and short stature, among others.

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    © All Rights Reserved
    Download as DOCX, PDF, TXT or read online from Scribd
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    5 views1 page

    Type Common Name Gene Locus Deficient Enzyme GAG Symptoms IH Ih/S IS

    Uploaded by

    Erick Roa Gandica
    This document summarizes 9 types of mucopolysaccharidoses (MPS), which are lysosomal storage diseases caused by the deficiency of specific enzymes involved in the breakdown of glycosaminoglycans. For each type of MPS, it lists the common name, deficient enzyme, gene locus, accumulated glycosaminoglycan, and associated symptoms. The types include Hurler syndrome, Hurler-Scheie syndrome, Scheie syndrome, Hunter syndrome, and several types of Sanfilippo syndrome and Morquio syndrome. The symptoms vary between types but can include developmental delay, coarse facial features, heart issues, liver and spleen enlargement, skeletal dysplasia, and short stature, among others.

    Copyright:

    © All Rights Reserved
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    of 1

    Type

    IH
    IH/S
    IS

    II

    IIIA
    IIIB

    Common name
    Hurler syndrome
    HurlerScheie
    syndrome
    Scheie syndrome

    Gene

    IDUA

    Locus

    4p16.3

    Deficient enzyme

    -L-iduronidase

    GAG

    Symptoms

    HS
    DS

    Mental retardation, micrognathia, coarse


    facial features, macroglossia, retinal
    degeneration, corneal clouding,
    cardiomyopathy, hepatosplenomegaly

    HS
    DS

    Mental retardation (similar, but milder,


    symptoms to MPS I). This type
    exceptionally has X-linked recessive
    inheritance

    HS

    Developmental delay, severe


    hyperactivity, spasticity, motor
    dysfunction, death by the second decade

    KS
    CS
    KS

    Severe skeletal dysplasia, short stature,


    motor dysfunction

    Mucopolysaccharidosis V

    Hunter syndrome
    Sanfilippo syndrome A
    Sulfamidase deficiency

    Sanfilippo syndrome B
    NAGLU deficiency

    IDS

    Xq28

    Iduronate sulfatase

    SGSH

    17q25.3

    Heparan sulfamidase

    NAGLU

    17q21.2

    N-acetylglucosaminidase

    IIIC

    Sanfilippo syndrome C

    HGSNAT

    8p11.21

    IIID

    Sanfilippo syndrome D

    GNS

    12q14.3

    Heparan--glucosaminide Nacetyltransferase
    N-acetylglucosamine 6-sulfatase

    IVA

    Morquio syndrome A

    GALNS

    16q24.3

    Galactose-6-sulfate sulfatase

    IVB

    Morquio syndrome B
    MaroteauxLamy
    syndrome

    GLB1

    3p22.3

    -galactosidase

    5q14.1

    N-acetylgalactosamine-4sulfatase

    DS

    VI

    ARSB

    ARSB deficiency

    VII

    IX

    Sly syndrome
    GUSB deficiency

    Natowicz syndrome
    Hyaluronidase deficiency

    GUSB

    7q11.21

    -glucuronidase

    HS
    DS
    CS

    HYAL1

    3p21.31

    Hyaluronidase

    HA

    Severe skeletal dysplasia, short stature,


    motor dysfunction, kyphosis, heart
    defects
    Hepatomegaly, skeletal dysplasia, short
    stature, corneal clouding, developmental
    delay
    Nodular soft-tissue masses around joints,
    episodes of painful swelling of the
    masses, short-term pain, mild facial
    changes, short stature

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