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- Title
From Shadows to Diagnosis: Unraveling L-2 Hydroxyglutaric Aciduria in Adulthood.
- Authors
Özbek, Ezgi Demirel; Nezerli, Jale; Akar, Halil Tuna; Yılmaz, Didem Yücel; Dursun, Ali; Göçmen, Rahşan; Dericioğlu, Neşe
- Abstract
L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive metabolic disorder that causes central nervous system dysfunction. We present the case of a 33-year-old woman with macrocephaly, developmental delay, cerebellar ataxia, pyramidal signs, and seizures. Despite typical clinical features and suggestive magnetic resonance imaging findings, the diagnosis was not made. Genetic analysis revealed a homozygous missense mutation in the L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. Treatment with riboflavin and L-carnitine was initiated. L2HGA should be considered in the differential diagnosis, even in adults, when suggestive imaging findings are present. Early diagnosis is crucial for better outcomes.
- Subjects
DIAGNOSIS of brain diseases; INBORN errors of metabolism diagnosis; DIFFERENTIAL diagnosis; CARNITINE; MAGNETIC resonance imaging; VITAMIN B2; DEVELOPMENTAL disabilities; CEREBELLAR ataxia; AGE factors in disease; SEIZURES (Medicine); CRANIOFACIAL abnormalities; GENETIC mutation; EARLY diagnosis; GENETIC testing; ACYCLIC acids; ADULTS
- Publication
Archives of Epilepsy, 2024, Vol 30, Issue 2, p53
- ISSN
2792-0550
- Publication type
Article
- DOI
10.4274/ArchEpilepsy.2024.24114