ArticleJournal of medical cases2022
Glutaric Aciduria Type 2 Presenting in Adult Life With Hypoglycemia and Encephalopathic Hyperammonemia.
Article in Journal of medical cases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- First report of neonatal-onset glutaric aciduria type II in the Iranian population caused by a novel deleterious ETFA variant.Orphanet journal of rare diseases · 2025Article
- Spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) including renal parenchymal malformations during fetal life and the implementation of prenatal exome sequencing (WES).Archives of gynecology and obstetrics · 2024Article
- Navigating the Diagnostic Journey in Pediatric Gastroenterology: Decoding Recurrent Vomiting and Epigastric Pain in a Child with Glutaric Aciduria Type II.Children (Basel, Switzerland) · 2024Article
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Authors and funding
7 authors.
Funding
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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.
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