Glutaric Aciduria Type III


Glutaric Aciduria Type III is an extremly rare metabolic abnormality of peroxisomal metabolism presumed to be cause by a deficiency in peroxisomal glutaryl-CoA oxidase. This deficiency results in accumulation of glutaric acid in urine. Symptoms include dysmorphism and hyperthyroidism.

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References

  1. Knerr I, Zschocke J, Trautmann U, Dorland L, de Koning TJ, Müller P, Christensen E, Trefz FK, Wündisch GF, Rascher W, Hoffmann GF. Glutaric aciduria type III: a distinctive non-disease? J Inherit Metab Dis. 2002 Oct; 25(6):483-90. Pubmed
  2. Benz, E., Cox, T., Firth, J., Warrel, D. Oxford Textbook of Medicine (pp. 131) Vol. II. (4th ed.) Oxford University Press: Oxford.