A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency

3-hydroxy-3-methylglutaric aciduria (OMIM 246450) is a rare autosomal recessive inborn of metabolism due to the deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase, an enzyme involved both in the ketogenic pathway and leucine catabolism. Acute decompensations present with lethargy, c...

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Main Authors: Santarelli, Francesca, Cassanello, Michela, Enea, Ausilia, Poma, Francesca, D'Onofrio, Valentina, Guala, Giovanna, Garrone, Giangiacomo, Puccinelli, Paola, Caruso, Ubaldo, Porta, Francesco, Spada, Marco
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2013
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3685558/
https://ncbi.nlm.nih.gov/pubmed/23705938
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1824-7288-39-33
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