3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency

Also Known As:

3-Hydroxy 3-Methyl Glutaric Aciduria; 3-Hydroxy-3-Methylglutaric Aciduria; 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency; 3-Hydroxyl 3-Methyl Glutaric Aciduria; Deficiency of Hydroxymethylglutaryl-CoA Lyase; HMG CoA Lyase Deficiency; HMG-CoA Lyase Deficiency; Hydroxymethylglutaric Aciduria

Networked: 58 relevant articles (0 outcomes, 2 trials/studies)

Bio-Agent Context: Research Results

Experts

1.	Ugarte, Magdalena: 2 articles (03/2022 - 03/2009)
2.	Adam, Tomáš: 2 articles (02/2020 - 01/2018)
3.	Friedecký, David: 2 articles (02/2020 - 01/2018)
4.	Václavík, Jan: 2 articles (02/2020 - 01/2018)
5.	Hong, Fang: 2 articles (01/2017 - 05/2014)
6.	Huang, Xiaolei: 2 articles (01/2017 - 05/2014)
7.	Huang, Xinwen: 2 articles (01/2017 - 05/2014)
8.	Mao, Huaqing: 2 articles (01/2017 - 05/2014)
9.	Tong, Fan: 2 articles (01/2017 - 05/2014)
10.	Yang, Jianbin: 2 articles (01/2017 - 05/2014)

Related Diseases

1.	Megalencephaly 02/01/1982 - "3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an infant with macrocephaly and mild metabolic acidosis." 07/01/2015 - "HMG-CoA lyase deficiency should be thought in the patients with hypoketotic hypoglycemia, hyperammonemia, elevated liver function tests, noncompaction left ventricle and characteristic white matter changes and in the differential diagnosis of macrocephaly." 07/01/1985 - "A 4-month-old infant with hypotonia and macrocephaly was diagnosed as having 3-hydroxy-3-methylglutaric aciduria, using gas chromatography and mass spectrometry and confirmatory enzyme studies. " 07/01/2015 - "The authors report case of an 8-mo-old infant with HMG-CoA lyase deficiency, who presented with macrocephaly, left ventricular noncompaction, recurrent pulmonary infections, nonketotic hypoglycemia, seizure and metabolic acidosis. "
2.	Sudden Infant Death (SID) 05/01/2014 - "[A family study of 3-hydroxy-3-methylglutaric aciduria with 3 cases of sudden infant death]."
3.	Muscle Hypotonia (Hypotonia) 07/01/1985 - "A 4-month-old infant with hypotonia and macrocephaly was diagnosed as having 3-hydroxy-3-methylglutaric aciduria, using gas chromatography and mass spectrometry and confirmatory enzyme studies. "
4.	Methylmalonic acidemia 01/01/2022 - "In terms of metabolic decompensation, two patients diagnosed with propionic acidemia, one patient with methylmalonic acidemia and one patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency presented clinical and biochemical findings of an acute metabolic attack. " 04/01/2000 - "Methylmalonic aciduria (mutase deficiency), multiple carboxylase deficiency, and 3-hydroxy-3-methylglutaric aciduria revealed pathological acylglycine profiles, even if not specific for the disease. " 04/01/1992 - "Methylmalonic acidemia (31%), 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (16%), and propionic acidemia (12%) were encountered more frequently than other types of organic acidemias. " 12/24/1990 - "Creatine excretion was measured in two patients with methylmalonic aciduria and two patients with 3-hydroxy-3-methylglutaric aciduria. " 12/14/1990 - "Positive ion TSP-LC-MS has been used to detect methylmalonic aciduria, 3-hydroxy-3-methylglutaric aciduria, propionic aciduria, isovaleric aciduria and argininosuccinic aciduria."
5.	Propionic Acidemia 01/01/2022 - "In terms of metabolic decompensation, two patients diagnosed with propionic acidemia, one patient with methylmalonic acidemia and one patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency presented clinical and biochemical findings of an acute metabolic attack. " 04/01/1992 - "Methylmalonic acidemia (31%), 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (16%), and propionic acidemia (12%) were encountered more frequently than other types of organic acidemias. " 12/14/1990 - "Positive ion TSP-LC-MS has been used to detect methylmalonic aciduria, 3-hydroxy-3-methylglutaric aciduria, propionic aciduria, isovaleric aciduria and argininosuccinic aciduria." 02/01/2009 - "The most frequent disorders were primary lactic acidemia (57), methylmalonic acidemia (34), glutaric acidemia type I (33), propionic acidemia (18), 3-hydroxy-3-methylglutaric aciduria (17), L-2-hydroxyglutaric aciduria (9) and multiple carboxylase deficiency (9). " 04/01/2017 - "Five (5.7%) cases of MHBD (2-methyl-3-hydroxybutyryl-CoA), 4 (4.5%) each of PPA (propionic aciduria) and HMG-CoA lyase deficiency, 3 (3.4%) cases each of IVA (isovaleric aciduria), multiple carboxylase deficiency, fructose-1, 6-biphosphatase deficiency, fumarase deficiency, GA-1 (glutaric aciduria type 1) and 2 (2.3%) cases of EMA (ethyl-malonic aciduria). "

Related Drugs and Biologics

1.	Enzymes
2.	Coenzyme A (CoA)
3.	Leucine (L-Leucine)
4.	3-methylcrotonyl CoA carboxylase 1 deficiency
5.	3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA)
6.	Transferases
7.	Lyases
8.	Carnitine (L-Carnitine)
9.	Branched-Chain Amino Acids
10.	Acids

Related Therapies and Procedures

1.	Protein-Restricted Diet (Diet, Protein Restricted)
2.	Therapeutics
3.	Ligation