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Case report: Adult presentation of glutaric aciduria type I
Levente Hadady1, Lívia Dézsi1, Tibor Kalmár2
1Department of Neurology, Albert Szent-Györgyi Medical School University of Szeged, Szeged.
Ideggyogyaszati Szemle
|August 5, 2026
Summary
Glutaric aciduria type 1 (GA1), a rare neurometabolic disorder, can present in adults with progressive neurological decline. Early detection and treatment are crucial to halt disease progression and prevent irreversible damage.
Area of Science:
- Neurology
- Metabolic Disorders
- Genetics
Background:
- Glutaric aciduria type 1 (GA1) is an autosomal recessive neurometabolic disorder caused by GCDH gene mutations.
- Enzyme deficiency leads to toxic metabolite accumulation, causing progressive neurological damage.
- GA1 is treatable with diet and emergency management, but often presents in childhood.
Purpose of the Study:
- To report a rare case of adult-onset GA1.
- To highlight the importance of considering GA1 in adult neurological decline.
- To emphasize the need for early detection strategies.
Main Methods:
- Case report of a 53-year-old male with progressive neurological symptoms.
- Diagnostic evaluation included metabolic laboratory testing and radiological imaging.
- Genetic testing confirmed a pathogenic homozygous mutation in the GCDH gene.
Main Results:
- The patient presented with spastic tetraparesis, dysarthria, and seizures, initially misdiagnosed.
- Metabolic and genetic testing confirmed GA1.
- Treatment with a low-lysine diet, carnitine, and riboflavin halted disease progression.
Conclusions:
- GA1 should be considered in adult patients with unexplained progressive neurological decline.
- Early diagnosis and intervention are critical for managing GA1 and preventing irreversible neurological damage.
- This case adds to the limited literature on adult GA1 and underscores the need for broader screening.
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