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Pathway Description
Glutaric Aciduria Type I (Lysine Degradation)
Homo sapiens
Disease Pathway
Created: 2022-11-24
Last Updated: 2023-10-25
Glutaric Aciduria Type 1 is a rare autosomal recessive disease caused by a mutation in the GCDH which codes for glutaryl-CoA dehydrogenase. A deficiency in this enzyme results in accumulation of 3-hydroxybutyric acid, 3-hydroxyglutaric acid, glutaconic acid, glutaric acid, and ketone bodies in urine. Symptoms include encephalopathy, grimacing, dystonia, metabolic acidosis, and hygroma. Treatment includes a low-protein diet, L-carnitine, riboflavin, and anticonvulsants.
References
Glutaric Aciduria Type I (Lysine Degradation) References
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