EC Number   |
Application |
Reference |
|---|
    4.1.3.4 | medicine |
3-hydroxy-3-methylglutaric aciduria is an autosomal recessive branched chain organic aciduria caused by the deficiency of the enzyme 3-hydroxy-3-methylglutaryl-CoA lyase |
704083 |
| 4.1.3.4 | medicine |
3-hydroxy-3-methylglutaryl CoA lyase deficiency is a rare autosomal recessive mitochondrial disease characterized by a deficiency in the enzyme 3-hydroxy-3-methylglutaryl CoA lyase |
691869, 693782 |
| 4.1.3.4 | medicine |
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency is a rare inborn error affecting leucine catabolism and ketogenesis, usually presenting in the neonatal period |
704971 |
| 4.1.3.4 | medicine |
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency may cause hypoglycaemia which can lead to death |
5368 |
| 4.1.3.4 | medicine |
dilated cardiomyopathy is associated with HMG CoA lyase deficiency |
703092 |
| 4.1.3.4 | medicine |
genetically heterogeneous deficiency, participation of S69 codon 2-base pair deletion in some cases |
5372 |
| 4.1.3.4 | medicine |
mutations in this enzyme cause a human autosomal recessive disorder called primary metabolic aciduria |
665744 |
