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Glutaric aciduria type III: a distinctive non-disease?
I Knerr1, J Zschocke, U Trautmann
1Department of Paediatrics, University of Erlangen-Nuremberg, Erlangen, Germany. ina.knerr@kinder.imed.uni-erlangen.de
Journal of Inherited Metabolic Disease
|January 31, 2003
Summary
Glutaric aciduria type III is a rare metabolic disorder causing persistent glutaric acid in urine. This study describes three children with this condition, highlighting its varied presentation and presumed peroxisomal origin.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Glutaric aciduria type III (GA-III) is a rare metabolic disorder characterized by persistent isolated glutaric acid excretion.
- Distinguishing GA-III from other glutaric acidurias and secondary causes is crucial for diagnosis.
Observation:
- Three children presented with elevated urinary glutaric acid levels, ranging from 290 to 1460 mmol/mol creatinine.
- Clinical presentations varied, including dysmorphic features, chromosomal deletion, acute gastroenteritis, hyperthyroidism, and asymptomatic cases.
- Exclusion of GA-I, GA-II, and secondary glutaric acidurias was confirmed through biochemical testing.
Findings:
- Lysine loading and pipecolic acid loading in affected children demonstrated an endogenous origin of glutarate.
- The presumptive diagnosis of GA-III, linked to peroxisomal glutaryl-CoA oxidase deficiency, was established.
- The study supports the notion that GA-III does not present with a distinct phenotype.
Implications:
- This research expands the understanding of GA-III by reporting on three additional cases.
- The findings suggest GA-III is a rare metabolic abnormality with a presumed peroxisomal origin.
- Further investigation is needed to elucidate the pathophysiological impact of GA-III.