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[Glutaric aciduria type I: diagnosis in adulthood and phenotypic variability]
I Corral1, J C Martínez Castrillo, M Martínez-Pardo
1Servicios de Neurología, Hospital Ramón y Cajal, Madrid. icorral@hrc.insalud.es
Neurologia (Barcelona, Spain)
|December 12, 2001
Summary
Glutaric aciduria type I (GA I), a rare metabolic disorder, can present in adulthood with movement disorders. Delayed diagnosis in siblings highlights the need to consider GA I in adult movement disorder cases.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Glutaric aciduria type I (GA I) is an autosomal recessive metabolic disorder.
- Typically presents in early childhood with movement disorders, but adult diagnoses are rare.
Observation:
- Two siblings diagnosed with GA I after over 20 years.
- Presented with acute encephalopathy, hypotonia, and progressive movement disorders (dystonia, choreoathetoid movements).
- Neuroimaging revealed white matter abnormalities and basal ganglia hyperintensities.
Findings:
- Confirmed GA I diagnosis in adulthood via elevated urinary glutaric and 3-hydroxiglutaric acids.
- Absent glutaryl-CoA dehydrogenase activity in fibroblasts.
- No response to carnitine and riboflavin treatment.
Implications:
- Suggests GA I should be considered in adults with unexplained movement disorders originating in childhood.
- Highlights the potential for delayed diagnosis in atypical presentations of GA I.
- Underscores the importance of considering metabolic disorders in adult neurology.