Glutaric Aciduria Type 2 Presenting in Adult Life With Hypoglycemia and Encephalopathic Hyperammonemia

Rute Sousa Martins, Arlindo Guimas, Sara Rocha, Rosa Ribeiro, Esmeralda Martins, Manuela Almeida, Dulce Quelhas


Glutaric aciduria type 2 is a rare inborn disease of fatty acid metabolism. The clinical manifestation of this disease is heterogeneous and ranges from severe neonatal forms to mild late-onset forms. We present a case of a previously healthy 22-year-old woman with unexplainable hypoglycemia and encephalopathic hyperammonemia. Acylcarnitine profile and organic acids analysis were compatible with glutaric aciduria type 2. On suspicion of this disease, the patient started supplements with carnitine and riboflavin, along with hemodialysis with a complete recovery. The genetic test confirmed the diagnosis. Glutaric aciduria type 2 has no cure and the metabolic decompensation can be a severe event, but treatable and preventable, if this pathology gets recognized.

J Med Cases. 2022;13(2):56-60


Glutaric aciduria type 2; Rare disease; Hypoglycemia

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