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Related Experiment Videos

Multiple sulphatase deficiency presenting at birth.

M Burch, A H Fensom, M Jackson

    Clinical Genetics
    |November 1, 1986
    PubMed
    Summary

    A rare genetic disorder, multiple sulphatase deficiency, presents at birth with severe developmental issues. This case highlights unique symptoms and profound enzyme deficiencies, aiding in understanding this rare condition.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Background:

    • Multiple sulphatase deficiency (MSD) is a rare lysosomal storage disorder.
    • It results from mutations in the SUMF1 gene, affecting multiple sulfatase enzymes.
    • MSD typically presents with a broad spectrum of clinical features and variable onset.

    Observation:

    • A neonate presented with dysmorphic features and hydrocephalus, indicative of a severe congenital disorder.
    • Distinctive features included chondrocalcificans congenita, cardiac abnormalities, and a unique laryngeal tissue fold.
    • Excessive mucopolysacchariduria was noted, a common marker for lysosomal storage disorders.

    Findings:

    • Profound deficiency of all tested sulphatases was confirmed in plasma, leukocytes, and skin fibroblasts.

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  • This biochemical profile strongly supports the diagnosis of multiple sulphatase deficiency.
  • Comparison with a previously reported early-onset case revealed both shared and novel clinical manifestations.

    • Implications:

    • This case expands the clinical spectrum of early-onset multiple sulphatase deficiency.
    • Understanding these variations is crucial for accurate diagnosis and genetic counseling.
    • Further research into MSD pathogenesis may reveal therapeutic targets for lysosomal storage disorders.