Inherited propionyl-CoA carboxylase deficiency in “ketotic hyperglycinemia”
Cultured fibroblasts from a young girl with ketotic hyperglycinemia were unable to oxidize propionate-(14)C to (14)CO(2), but oxidized methylmalonate-(14)C and succinate-(14)C normally. This block in propionate catabolism was shown to result from a lack of propionyl-CoA carboxylase activity. The car...
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| Published in: | J Clin Invest |
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| Main Authors: | , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
American Society for Clinical Investigation
1971
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC291900/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/5101292/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI106466 |
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