GLDC
| is a | gene |
| is | mentioned by |
| ClinVar | GLDC |
| GeneCards | GLDC |
| Diseases | GLDC |
| wikipedia | GLDC |
| GLDC | |
| gopubmed | GLDC |
| EVS | GLDC |
| HEFalMp | GLDC |
| MyGene2 | GLDC |
| 23andMe | GLDC |
| # SNPs | 97 |
The GLDC gene provides instructions for making an enzyme called glycine dehydrogenase.GHR
Mutations in the GLDC gene account for about 80 percent of all cases of glycine encephalopathy, also known as non-ketotic hyperglycinemia or NKH, a genetic disorder characterized by abnormally high levels of a molecule called glycine. This molecule is an amino acid, which is a building block of proteins. Glycine also acts as a neurotransmitter, which is a chemical messenger that transmits signals in the brain. Glycine encephalopathy is caused by the shortage of an enzyme that normally breaks down glycine in the body. A lack of this enzyme allows excess glycine to build up in tissues and organs, particularly the brain, leading to serious medical problems.GHR
The most common form of glycine encephalopathy, called the classical type, appears shortly after birth. Affected infants experience a progressive lack of energy (lethargy), feeding difficulties, weak muscle tone (hypotonia), abnormal jerking movements, and life-threatening problems with breathing. Most children who survive these early signs and symptoms develop profound intellectual disability and seizures that are difficult to treat. For unknown reasons, affected males are more likely to survive and have less severe developmental problems than affected females.GHR
