2005-12-01
Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation
Publication
Publication
Journal of Inherited Metabolic Disease , Volume 28 - Issue 6 p. 1136- 1138
Since the introduction of neonatal screening for branched-chain organic acidurias, it has been noted that isolated 3-methylcrotonyl-CoA carboxylase deficiency is probably one of the most frequent organic acidurias. Only a few cases with severe clinical presentation have been described. Profound hypoglycaemia is an uncommon but life-threatening complication.
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| doi.org/10.1007/s10545-005-4545-1, hdl.handle.net/1765/56348 | |
| Journal of Inherited Metabolic Disease | |
| Organisation | Department of Pediatrics |
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Oude Luttikhuis, H. G. M., Touati, G., Rabier, D., Williams, M., Jakobs, C., & Saudubray, J. (2005). Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation. Journal of Inherited Metabolic Disease, 28(6), 1136–1138. doi:10.1007/s10545-005-4545-1 |
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