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HMG CoA lyase deficiency

Also Known As:
3-hydroxy-3-methylglutaric aciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency; HMG-CoA lyase deficiency; Hydroxymethylglutaric aciduria
Networked: 31 relevant articles (0 outcomes, 2 trials/studies)

Bio-Agent Context: Research Results

Experts

1. Han, Lian-shu: 2 articles (05/2005 - 06/2004)
2. Gao, Xiao-lan: 2 articles (05/2005 - 06/2004)
3. Gu, Xue-fan: 2 articles (05/2005 - 06/2004)
4. Qiu, Wen-juan: 2 articles (05/2005 - 06/2004)
5. Ye, Jun: 2 articles (05/2005 - 06/2004)
6. Köksal, Tülin: 1 article (07/2015)
7. Azak, Emine: 1 article (07/2015)
8. Gündüz, Mehmet: 1 article (07/2015)
9. Özaydın, Eda: 1 article (07/2015)
10. Ichihara, Tomoko: 1 article (06/2015)

Related Diseases

1. Macrocephaly
2. Sudden Infant Death (SID)
3. Muscle Hypotonia (Hypotonia)
4. Propionic Acidemia
5. Maple Syrup Urine Disease
11/01/2012 - "The commonest conditions encountered were maple syrup urine disease (MSUD), phenylketonuria (PKU), propionic and isovaleric acidurias, as well as HMG-CoA lyase deficiency and glutaric aciduria type II (GA-II). "
04/01/1992 - "All had inborn errors of amino acid metabolism: maple syrup urine disease (MSUD), 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency, propionic acidemia (PPA), or methylmalonic aciduria (MMA). "
02/01/2009 - "The following disorders were diagnosed subsequently but were not detected by the cord blood screening: phenylketonuria (PKU) (1 case), maple syrup urine disease (MSUD) (2 cases), argininosuccinic aciduria (1 case), methylmalonic acidaemia (MMA) (1 case), glutaric aciduria type 2 (1 case), MCAD deficiency (2 cases), 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (1 case). "
01/01/1982 - "Examples are the leucine degradation defects, all encountered in the authors' laboratory: branched-chain ketoaciduria; isovaleric acidaemia; 3-methylcrotonylglycinuria; 3-methylglutaconic aciduria; and 3-hydroxy-3-methylglutaric aciduria. "
12/17/2005 - "Because screening may lead to considerably better outcomes in affected newborns, the council recommends expanding current screening to include medium-chain acyl-CoA dehydrogenase deficiency, sickle-cell disease and 12 other rare disorders: biotinidase deficiency, galactosaemia, glutaricaciduria type I, HMG-CoA lyase deficiency, holocarboxylase-synthetase deficiency, homocystinuria, isovaleric-acidaemia, long-chain hydroxyacyl-CoA dehydrogenase deficiency, maple syrup urine disease, 3-methylcrotonyl-CoA carboxylase deficiency, tyrosinaemia I and very-long-chain acyl-CoA dehydrogenase deficiency. "

Related Drugs and Biologics

1. Medium chain acyl CoA dehydrogenase deficiency
2. Coenzyme A (CoA)
3. Methylmalonic acidemia
4. Leucine (L-Leucine)
5. isovaleric Acidemia
6. VLCAD deficiency
7. 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA)
8. Reactive Oxygen Species (Oxygen Radicals)
9. Transferases
10. Oxidoreductases

Related Therapies and Procedures

1. Ligation