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Published on: December 20, 2017
[Glutaric aciduria type 1: phenotypic variability. Report of 6 patients]
E B Casella1, A U Bresolin, M Valente
1Instituto da Criança do Hospital das Clínica (HC), Faculdade de Medicina, Universidade de São Paulo (FMUSP), Brasil. erasmobc-icr.hcnet.usp.br
Arquivos De Neuro-Psiquiatria
|December 16, 1998
Summary
Glutaric aciduria type 1 presents with varied neurological symptoms, even within families. Early diagnosis and intervention are crucial for managing this rare metabolic disorder.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Context:
- Glutaric aciduria type 1 (GA1) is a rare inherited metabolic disorder.
- It results from deficiency of the glutaryl-CoA dehydrogenase enzyme.
- GA1 is characterized by accumulation of glutaric acid and 3-hydroxyglutaric acid.
Purpose:
- To describe the clinical variability and neuroimaging findings in six patients with GA1.
- To highlight the challenges in diagnosing GA1 due to its diverse presentation.
Summary:
- Six patients from four families with GA1 exhibited significant clinical heterogeneity.
- Presentations ranged from normal development to severe intellectual disability and movement disorders.
- Macrocephaly and characteristic CT findings (enlarged CSF spaces, sulcal widening) were observed in all patients.
Impact:
- This study underscores the importance of considering GA1 in patients with unexplained neurological symptoms.
- Early recognition and biochemical testing are vital for timely management and improved outcomes in GA1.
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