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Related Experiment Videos

Isovalericacidemia: a case report.

P A Winokur, K Vashistha, R Seshamani

    Pediatrics
    |June 1, 1978
    PubMed
    Summary
    This summary is machine-generated.

    Early metabolic screening is crucial for infants presenting with vomiting and ketoacidosis. Prompt diagnosis of isovalericacidemia prevents developmental issues.

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    Area of Science:

    • Biochemistry
    • Pediatrics
    • Metabolic Disorders

    Background:

    • Aminoacidopathies are rare inherited metabolic diseases.
    • These disorders often manifest in early infancy with severe symptoms like vomiting, dehydration, and ketoacidosis.
    • Delayed diagnosis can lead to significant developmental delays or death.

    Observation:

    • A case of isovalericacidemia, a specific aminoacidopathy, is presented.
    • The infant exhibited typical symptoms including vomiting, dehydration, and ketoacidosis.
    • An elevated anion gap (greater than 20 mEq/liter) was noted.

    Findings:

    • Clinical presentation suggested a metabolic disorder.
    • Elevated levels of metabolic byproducts confirmed isovalericacidemia.

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  • The diagnosis was supported by characteristic clinical and biochemical findings.

    • Implications:

    • Highlights the importance of metabolic screening in infants with suggestive symptoms and an elevated anion gap.
    • Early identification and intervention, such as a low-leucine diet, are critical for normal development.
    • Timely diagnosis and management of aminoacidopathies can prevent severe long-term consequences.