Glutaric aciduria type 1 presenting with Parkinsonism with presynaptic dopaminergic dysfunction in an adult female: a case report.
Matej Lokar, Katja Jarc Georgiev, Tomaž Rus et al.
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Case in brief
A 43-year-old woman presented with levodopa-responsive parkinsonism and presynaptic dopaminergic dysfunction. Genetic testing identified compound heterozygous variants in the GCDH gene, confirming a diagnosis of glutaric aciduria type 1 (GA1). This case highlights the atypical adult presentation of GA1, which is usually diagnosed in infancy, and the patient's favorable response to levodopa treatment.
What made this case unusual
The case is notable for the extremely rare GCDH variant (c.1178G > A, p. Gly393Glu) and the demonstration of presynaptic dopaminergic dysfunction in an adult diagnosed with GA1.
Diagnostic / clinical pearl
Clinicians should consider glutaric aciduria type 1 in adults presenting with parkinsonism, especially when accompanied by presynaptic dopaminergic dysfunction.
Why it matters
This case underscores the importance of recognizing atypical presentations of metabolic disorders in adults, which can lead to timely diagnosis and management.