Abstract
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.
Highlights
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
3-hydroxy-3-methylglutaric aciduria (OMIM 246450) is a rare autosomal recessive inborn disease due to the deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase, an enzyme catalyzing the cleavage of HMG-CoA to acetyl-CoA and acetoacetic acid, leading to the common final step of ketogenic pathway and leucine catabolism, presenting with a typical pattern of urinary organic acids
3-hydroxy-3-methylglutaric aciduria is a rare disease characterized by the lack of 3-hydroxy-3-methylglutarylcoenzyme A (HMG CoA) lyase (HL), an enzyme presenting into two different isoforms: the first one, located in mithocondria, catalyzes the conversion of HMG-CoA into acetoacetate and acetyl-CoA, while the second one, expressed in peroxisomes, is hypothesized to be involved in cholesterol synthesis and long-chain fatty acid degradation [2]
Summary
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. We report the case of a newborn with HMG-CoA lyase deficiency presenting at 3 days of life with a sudden severe hypoglycemic crisis misdiagnosed with sepsis. The evidence of severe hypoglycaemia accompanied by acidosis and hyperammonaemia prompted the differential diagnosis between beta-oxidation disorders and gluconeogenesis defects.
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
