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Hyper-2-oxoglutaric aciduria in long-term mental handicap
Journal of Mental Deficiency Research
|September 1, 1986
Summary
Researchers screened 1,175 patients for urinary 2-oxoacids. Bacteriuria was identified as a cause of hyper-2-oxoglutaric aciduria in some males, linked to neurological issues.
Area of Science:
- Biochemistry
- Metabolic Disorders
- Neurodevelopmental Disorders
Background:
- Intellectual disability affects a significant population, with underlying causes often complex.
- Inborn errors of metabolism can manifest as neurodevelopmental impairments.
Purpose of the Study:
- To investigate urinary 2-oxoacid excretion in institutionalized patients with intellectual disability.
- To identify potential metabolic causes and associated neurological conditions.
Main Methods:
- Quantitative gas chromatography was used to screen 1,175 patients for urinary 2-oxoacids.
- Follow-up analyses included blood metabolite levels and clinical assessments.
Main Results:
- Hyper-2-oxoglutaric aciduria was detected in 31 male patients.
- Bacteriuria was identified as a cause in 10 cases; others showed elevated blood citric or pyruvic/2-oxoglutaric acids.
- Persistent hyper-2-oxoglutaric aciduria correlated with increased seizure disorders and cerebral palsy.
Conclusions:
- Hyper-2-oxoglutaric aciduria in this cohort may represent mild, heterogeneous inborn errors of energy metabolism.
- These conditions can be compatible with survival but not normal neurodevelopmental function.