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Related Experiment Videos

Hydroxyprolinaemia with normal development

M J Robinson, I S Menzies, I Sloan

    Archives of Disease in Childhood
    |June 1, 1980
    PubMed
    Summary
    This summary is machine-generated.

    This study details a sixth case of hydroxyprolinaemia, an amino acid disorder. The infant shows normal development, suggesting this condition is benign.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Background:

    • Hydroxyprolinaemia is a rare inherited metabolic disorder.
    • It is characterized by elevated levels of the amino acid hydroxyproline in the blood.

    Observation:

    • A sixth case of hydroxyprolinaemia is presented.
    • An infant with presumed heterozygosity for the condition was studied.

    Findings:

    • The presumed heterozygote did not show an abnormal response to an oral hydroxyproline load.
    • The infant is developing normally at 36 months of age.

    Implications:

    • This case supports the hypothesis that hydroxyprolinaemia is a benign condition.
    • Further understanding of hydroxyprolinaemia's clinical course and genetic basis is warranted.