title: A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency.
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.
authors.forename: Francesca
authors.initials: F
authors.lastname: Santarelli
authors.forename: Michela
authors.initials: M
authors.lastname: Cassanello
authors.forename: Ausilia
authors.initials: A
authors.lastname: Enea
authors.forename: Francesca
authors.initials: F
authors.lastname: Poma
authors.forename: Valentina
authors.initials: V
authors.lastname: D'Onofrio
authors.forename: Giovanna
authors.initials: G
authors.lastname: Guala
authors.forename: Giangiacomo
authors.initials: G
authors.lastname: Garrone
authors.forename: Paola
authors.initials: P
authors.lastname: Puccinelli
authors.forename: Ubaldo
authors.initials: U
authors.lastname: Caruso
authors.forename: Francesco
authors.initials: F
authors.lastname: Porta
authors.forename: Marco
authors.initials: M
authors.lastname: Spada
mesh_terms: D000101:Acetyl-CoA C-Acetyltransferase / Q000172:deficiency*; D000138:Acidosis / Q000209:etiology; D000208:Acute Disease; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D005977:Glutarates / Q000652:urine; D005998:Glycine / Q000031:analogs & derivatives / Q000652:urine; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology; D007231:Infant, Newborn; D008297:Male; D015093:Meglutol / Q000031:analogs & derivatives / Q000652:urine
chemical_list: D005977:Glutarates; C002163:beta-methylcrotonylglycine; C033686:3-methylglutaric acid; C022034:3-methylglutaconic acid; D015093:Meglutol; D000101:Acetyl-CoA C-Acetyltransferase; D005998:Glycine