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Medium-chain acyl-Coenzyme A dehydrogenase deficiency (MCADD): a cause of severe hypoglycaemia in an apparently well child
Medium-chain acyl-Coenzyme A dehydrogenase deficiency (MCADD) is a disorder of fatty acid β oxidation inherited in an autosomal recessive manner. The enzyme is useful in hepatic ketogenesis, a major source of energy once hepatic glycogen stores become depleted during prolonged fasting. It is a cause...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | BMJ Case Rep |
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| Κύριος συγγραφέας: | |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BMJ Publishing Group
2016
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5174908/ https://ncbi.nlm.nih.gov/pubmed/27903579 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2016-217538 |
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