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Related Experiment Videos

Abnormal keratan sulphate excretion.

K Longdon, C A Pennock

    Annals of Clinical Biochemistry
    |May 1, 1979
    PubMed
    Summary
    This summary is machine-generated.

    Simple urine tests detect abnormal keratan sulphate excretion in children with bone and cartilage disorders. This finding is specific to certain conditions like Morquio syndrome during childhood.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Background:

    • Keratan sulphate is a glycosaminoglycan found in cartilage and bone.
    • Abnormal excretion of keratan sulphate in urine is associated with certain genetic disorders.
    • Mucopolysaccharidoses and other skeletal dysplasias can affect cartilage and bone development.

    Purpose of the Study:

    • To investigate the utility of simple keratan sulphate detection methods in urine.
    • To correlate urinary keratan sulphate levels with various bone and cartilage dysplasias.
    • To determine if abnormal keratan sulphate excretion is a useful diagnostic marker in specific patient populations.

    Main Methods:

    • Analysis of over 300 urine samples from children and adults.
    • Application of simple detection methods for keratan sulphate.

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  • Clinical correlation with diagnoses of bone and cartilage dysplasias, including those with mental retardation.

    • Main Results:

    • Abnormal keratan sulphate excretion was identified in patients with type IV mucopolysaccharidosis (Morquio syndrome), but only during childhood.
    • Elevated keratan sulphate levels were also observed in Kniest dysplasia and GM1 gangliosidosis.
    • Potential for abnormal excretion in other poorly understood bone and cartilage dysplasias was noted.

    Conclusions:

    • Urinary keratan sulphate detection is a valuable tool for diagnosing certain skeletal dysplasias, particularly in childhood.
    • The diagnostic utility of keratan sulphate levels varies with age and specific condition.
    • Further research is warranted to explore the role of keratan sulphate in undiagnosed bone and cartilage disorders.