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[Isovaleric acidemia].

A M Gerdes, N Gregersen, F Güttler

    Ugeskrift for Laeger
    |October 23, 1989
    PubMed
    Summary
    This summary is machine-generated.

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    Isovaleric acidemia, a metabolic disorder, presents with vomiting and lethargy. Early diagnosis and management, including protein restriction, are crucial for affected children.

    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Background:

    • Isovaleric acidemia is an inherited metabolic disorder.
    • It is characterized by a distinctive "sweaty feet" odor, vomiting, lethargy, and ketoacidosis.

    Observation:

    • Describes the first three Scandinavian cases of isovaleric acidemia.
    • Attacks are frequently triggered by infections or high protein intake.
    • Feeding difficulties and food aversion are common due to protein intolerance.

    Findings:

    • The disorder results from deficient isovaleryl-CoA dehydrogenase activity.
    • Increased urinary excretion of isovaleryl-glycine and 3-hydroxy-isovaleric acid are key biomarkers.
    • The gene defect is located on chromosome 15, with multiple mutations identified.

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    Implications:

    • Subdivided into acute neonatal and chronic intermittent forms.
    • Therapy involves managing metabolic acidosis, dietary protein restriction, and supplementation with glycine and carnitine.
    • Genetic analysis aids in understanding disease heterogeneity and patient stratification.