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Related Experiment Videos

Hypermethioninemia in an infant.

R G Meny, R L Gutberlet, P Ozand

    American Journal of Diseases of Children (1960)
    |March 1, 1978
    PubMed
    Summary

    Hypermethioninemia in an infant was initially misdiagnosed as a metabolic disorder. Further observation revealed it stemmed from prematurity, hepatitis, and diet, not an inborn error of metabolism.

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    Area of Science:

    • Biochemistry
    • Pediatrics
    • Metabolic Disorders

    Background:

    • Infantile hypermethioninemia can mimic inherited metabolic diseases.
    • Differentiating metabolic etiologies from secondary causes is crucial for accurate diagnosis and treatment.

    Observation:

    • An infant presented with hepatitis and elevated methionine levels.
    • Initial investigations suggested an inborn error of metabolism, like methionine adenosyltransferase deficiency or hereditary tyrosinemia.

    Findings:

    • The infant's clinical progression did not align with a primary metabolic defect.
    • Hypermethioninemia was ultimately attributed to a combination of prematurity, hepatitis, and a specific dietary intake.

    Implications:

    • This case highlights the importance of considering multifactorial causes for hypermethioninemia in infants.
    • It underscores the need for comprehensive evaluation beyond suspected inborn errors of metabolism, especially in premature infants with liver disease.

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