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Massachusetts Metabolic Disorders Screening Program: III. Sarcosinemia.

H L Levy, J T Coulombe, R Benjamin

    Pediatrics
    |October 1, 1984
    PubMed
    Summary

    Sarcosinemia, a metabolic disorder, appears benign based on a study of four children. Most affected individuals showed normal development, suggesting associated symptoms may be coincidental.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Background:

    • Sarcosinemia is a rare metabolic disorder.
    • Neonatal urine screening is used for detecting metabolic and transport disorders.

    Purpose of the Study:

    • To investigate the clinical presentation and outcomes of children with sarcosinemia.
    • To determine if sarcosinemia is associated with developmental or physical abnormalities.

    Main Methods:

    • Case study of four children diagnosed with sarcosinemia via neonatal urine screening or family screening.
    • Analysis of plasma and urine sarcosine concentrations.
    • Longitudinal follow-up including physical examinations and IQ assessments.

    Main Results:

    • Four children with sarcosinemia were identified with elevated plasma and urine sarcosine levels.
    • Follow-up at ages 3.8 to 15 years revealed normal physical examinations and IQ scores ranging from 89 to 111.
    • One child had a learning and emotional disorder, and another experienced emotional instability.

    Conclusions:

    • Sarcosinemia is likely a benign biochemical finding.
    • Observed mental retardation and dysmorphic features in other cases may be coincidental.
    • Emotional disturbances warrant further investigation but may also be coincidental.

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