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Glutaric Aciduria Presenting With an Acute Encephalitic Crisis: A Case Report

Manojkumar G Patil1, Neha Tyagi1, Om Prasanth Reddy Avuthu1

  • 1Pediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, IND.

Cureus
|August 30, 2024
PubMed
Summary

Glutaric aciduria type 1 (GA1), a rare genetic disorder, results from glutaryl-CoA dehydrogenase deficiency. Early diagnosis and treatment, including a low-lysine diet and carnitine, are crucial for reducing severe neurological symptoms and mortality.

Keywords:
amino acidgenetic metabolic disordersneurology and critical carepediatricstandem mass spectrometry

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