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Pathway Description
Glutaric Aciduria Type I (Fatty Acid Metabolism)
Homo sapiens
Disease Pathway
Created: 2022-12-05
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 (Fatty Acid Metabolism) References
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Uniprot: Q9HAC7
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Pubmed: 9259266
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Pubmed: 8241273
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Pubmed: 12189492
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Pubmed: 8584017
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