ArticleItalian journal of pediatrics2013
A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency.
Article in Italian journal of pediatrics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed.
- Small Molecules as Alternate Substrates for 3-Methylglutaconylation.JIMD reports · 2025Article
- Metabolic origin and significance of 3-methylglutaryl CoA.Clinica chimica acta; international journal of clinical chemistry · 2025Review
- Disruption of Mitochondrial Quality Control in Inherited Metabolic Disorders.Molecular neurobiology · 2025Review
- A comprehensive approach for detection of biotin deficiency from dried blood spot samples using liquid chromatography-mass spectrometry.Future science OA · 2024Article
- Outcomes of cases with elevated 3-hydroxyisovaleryl carnitine report from the newborn screening program.Molecular genetics and metabolism reports · 2024Article
- Factors Affecting Non-Enzymatic Protein Acylation byMetabolites · 2024Article
- The Urinary Metabolome of Newborns with Perinatal Complications.Metabolites · 2024Article
- 3-Methylglutarylcarnitine: A biomarker of mitochondrial dysfunction.Clinica chimica acta; international journal of clinical chemistry · 2023Review
- Characterization ofMetabolites · 2023Article
- Role of non-enzymatic chemical reactions in 3-methylglutaconic aciduria.The FEBS journal · 2022Article
- HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients.Frontiers in genetics · 2022Article
- Inborn errors of metabolism associated with 3-methylglutaconic aciduria.Clinica chimica acta; international journal of clinical chemistry · 2021Review
- 3-Methylglutaric acid in energy metabolism.Clinica chimica acta; international journal of clinical chemistry · 2020Review
- Approach to Patients with Neurometabolic Diseases Who Show Characteristic Signs and Symptoms.Iranian journal of child neurology · 2020Review
- Differential diagnosis between hepatocellular carcinoma and cirrhosis by serum amino acids and acylcarnitines.International journal of clinical and experimental pathology · 2018Article
- Management and long-term evolution of a patient with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.Italian journal of pediatrics · 2017Article
- 3-Hydroxy-3-methylglutaric aciduria with bilateral basal ganglia lesion: A case report.Experimental and therapeutic medicine · 2016Article
- Disturbance of redox homeostasis as a contributing underlying pathomechanism of brain and liver alterations in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.Journal of inherited metabolic disease · 2015Review
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Authors and funding
11 authors.
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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.
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