Open AccessGlutaric Aciduria Type 2 Presenting in Adult Life With Hypoglycemia and Encephalopathic Hyperammonemia
Author(s) -
Rute Martins,
Arlindo Guimas,
Sara Rocha,
Rosa Lúcia Rocha Ribeiro,
Esmeralda Martins,
Manuela Almeida,
Dulce Quelhas
Publication year - 2022
Publication title -
journal of medical cases
Language(s) - English
Resource type - Journals
eISSN - 1923-4163
pISSN - 1923-4155
DOI - 10.14740/jmc3840
Subject(s) - hyperammonemia , medicine , hypoglycemia , glutaric acid , pediatrics , carnitine , urea cycle , decompensation , endocrinology , gastroenterology , diabetes mellitus , biochemistry , chemistry , amino acid , arginine
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.