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Case Reports
. 2022 Feb;13(2):56-60.
doi: 10.14740/jmc3840. Epub 2022 Feb 16.

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

Rute Sousa Martins  1 , Arlindo Guimas  1   2 , Sara Rocha  1   2 , Rosa Ribeiro  1   2 , Esmeralda Martins  2 , Manuela Almeida  2   3   4 , Dulce Quelhas  2   3   4
Affiliations
Case Reports

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

Rute Sousa Martins et al. J Med Cases. 2022 Feb.

Abstract

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.

Keywords: Glutaric aciduria type 2; Hypoglycemia; Rare disease.

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Conflict of interest statement

None to declare.

Figures

Figure 1
Figure 1
Figure 1. Evolution of free carnitine (C0) profile since diagnosis (D0) until discharge (D8). Units are in µM.
Figure 2
Figure 2
Figure 2. Evolution of acylcarnitine profile since diagnosis (D0) until discharge (D8). Units are in µM.
See this image and copyright information in PMC

References

    1. Wasant P, Kuptanon C, Vattanavicharn N, Liammongkolkul S, Ratanarak P, Sangruchi T, Yamaguchi S. Glutaric aciduria type 2, late onset type in Thai siblings with myopathy. Pediatr Neurol. 2010;43(4):279–282. doi: 10.1016/j.pediatrneurol.2010.05.018. - DOI - PubMed
    1. Soldath P, Lund A, Vissing J. Late-onset MADD: a rare cause of cirrhosis and acute liver failure? Acta Myol. 2020;39(1):19–23. - PMC - PubMed
    1. Nyhan WL, Hoffmann GF, Al-Aqeel AI, Barshop BA. Atlas of inherited metabolic diseases. Boca Raton: CRC Press; 2020. - DOI
    1. Angle B, Burton BK. Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II. Mol Genet Metab. 2008;93(1):36–39. doi: 10.1016/j.ymgme.2007.09.015. - DOI - PubMed
    1. al-Essa MA, Rashed MS, Bakheet SM, Patay ZJ, Ozand PT. Glutaric aciduria type II: observations in seven patients with neonatal- and late-onset disease. J Perinatol. 2000;20(2):120–128. doi: 10.1038/sj.jp.7200325. - DOI - PubMed

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