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Glutaric aciduria Type II

L Sweetman, W L Nyhan, D A Tauner

    The Journal of Pediatrics
    |June 1, 1980
    PubMed
    Summary
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    Glutaric aciduria Type II is a severe neonatal disorder presenting with overwhelming illness and characteristic metabolic abnormalities. Early diagnosis and understanding of acyl-CoA dehydrogenase deficiencies are crucial for affected infants.

    Area of Science:

    • Biochemistry
    • Genetics
    • Neonatal Medicine

    Background:

    • Glutaric aciduria Type II (GAII) is a rare metabolic disorder.
    • It is characterized by defects in multiple acyl-CoA dehydrogenases.
    • This leads to the accumulation of various organic acids in body fluids.

    Observation:

    • Two infants with GAII presented with severe neonatal illness and died within the neonatal period.
    • One infant exhibited dysmorphic features.
    • A distinctive acrid odor was noted, potentially aiding diagnosis.

    Findings:

    • Key biochemical findings included neonatal acidosis, hypoglycemia, and hyperammonemia.
    • Organic acid analysis revealed massive lactic aciduria and glutaric aciduria.
    • Elevated levels of other dicarboxylic acids, hydroxy acids, amino acids, and short-chain fatty acids were observed.

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    Implications:

    • The observed metabolite pattern strongly suggests deficient activity of multiple acyl-CoA dehydrogenases.
    • Understanding these biochemical pathways is critical for diagnosing and potentially managing GAII.
    • This case highlights the severe presentation and diagnostic clues of GAII in neonates.