Glutaric Aciduria (Type I) in Young Infants with Seizures: A case series highlighting Diagnostic Dilemma with Radiological Keys

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Two of five infants were diagnosed with glutaric aciduria type I, showing key neuroimaging findings of striatal damage.
Neuroimaging revealed the 'bat wing' appearance and other specific signs in diagnostic confirmation of GA-1.
Evaluations involved multiple techniques, including tandem mass spectrometry and magnetic resonance imaging, to assess metabolic disorders.
A multidisciplinary approach is crucial for timely diagnosis and treatment, preventing further neurological damage in infants.

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Case series reports two confirmed glutaric aciduria type I cases among five infants, highlighting neuroimaging's role in diagnosis.

Doshi et al. (2025) studied this question.

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