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Prenatal metachromatic leukodystrophy.

U N Wiesmann, C Meier, M A Spycher

    Helvetica Paediatrica Acta
    |May 1, 1975
    PubMed
    Summary
    This summary is machine-generated.

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    Prenatal diagnosis of metachromatic leukodystrophy is possible through amnion cell culture and arylsulfatase A enzyme analysis. This allows for early identification and confirmation of the genetic disorder in at-risk pregnancies.

    Area of Science:

    • Biochemistry
    • Genetics
    • Neurology

    Background:

    • Metachromatic leukodystrophy (MLD) is a rare genetic disorder affecting the nervous system.
    • Early diagnosis is crucial for potential management and genetic counseling.
    • Prenatal monitoring offers an opportunity to assess fetal risk.

    Observation:

    • Amnion cell culture was used to monitor two high-risk pregnancies for MLD.
    • One pregnancy resulted in a predicted and born healthy infant.
    • The other pregnancy showed a prenatal deficiency in arylsulfatase A.

    Findings:

    • Prenatal diagnosis of MLD was confirmed biochemically by deficient arylsulfatase A activity in fetal organs.
    • The residual enzyme exhibited an abnormal pH optimum and increased heat stability.

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  • Ultrastructural analysis revealed lipid storage in the fetal nervous system and liver.

    • Implications:

    • Prenatal diagnosis of MLD is feasible using enzyme assays on fetal cells.
    • Biochemical and ultrastructural findings aid in confirming the diagnosis.
    • This monitoring is vital for families with a history of MLD, enabling informed decisions.