Open Access Open Badges Case report

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

Francesca Santarelli1*, Michela Cassanello2, Ausilia Enea1, Francesca Poma1, Valentina D'Onofrio1, Giovanna Guala3, Giangiacomo Garrone4, Paola Puccinelli1, Ubaldo Caruso2, Francesco Porta1 and Marco Spada1

Author Affiliations

1 Department of Pediatrics, University of Torino, Regina Margherita Children Hospital, Piazza Polonia 92, 10126 Torino, Italy

2 Gaslini Hospital, Via Gerolamo Gaslini, 5, 16148Genova, Italy

3 Neonatal Intensive Care Unite, Maria Vittoria Hospital, Via Cibrario 72, 10144 Torino, Italy

4 Ivrea General Hospital, P.zza Credenza 2, 10015 Ivrea (Torino), Italy

For all author emails, please log on.

Italian Journal of Pediatrics 2013, 39:33  doi:10.1186/1824-7288-39-33

Published: 24 May 2013


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, cianosis, hypotonia, vomiting and metabolic acidosis with hypoketotic hypoglycemia. We report the case of a 3 days male with sudden hypoglycemic crisis initially misdiagnosed as a sepsis. HMG-CoA lyase deficiency was achieved through acyl-carnitines profile (showing a typical increasing of 3-hydroxy-isovaleryl and 3-methylgluraryl carnitines) and urinary organic acids analysis (disclosing elevation of 3-hydroxy-3-methylglutaric, 3-methyl-glutaconic, 3-methylglutaric and 3-hydroxyisovaleric acids). This case underlines the need of suspecting such inborn metabolic disorder in cases with hypoglycemia and metabolic acidosis. Acyl-carnitine and urinary organic acids profiles are essential to achieve a prompt diagnosis of treatable metabolic disorders in order to prevent their acute crisis with serious or even fatal consequences.