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GLDC

From SNPedia
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is mentioned by
ClinVarGLDC
GeneCardsGLDC
DiseasesGLDC
wikipediaGLDC
googleGLDC
gopubmedGLDC
EVSGLDC
HEFalMpGLDC
MyGene2GLDC
23andMeGLDC
# SNPs97
 Max MagnitudeChromosome positionSummary
i5007984
i5007985
i5007986
i5007987
rs109756416,556,839
rs1219649748.86,588,417
rs1219649758.86,554,716
rs1219649768.86,589,230
rs1219649778.86,553,420
rs1219649788.86,645,498
rs1219649798.86,595,109
rs1219649808.86,554,768
rs1490702448.86,540,050
rs20113562406,558,671
rs38683351606,604,643
rs3868335178.86,604,637
rs38683351806,604,592
rs38683351906,602,153
rs38683352006,595,100
rs38683352106,592,982
rs38683352206,592,966
rs38683352306,592,933
rs38683352406,592,870
rs38683352506,592,224
rs38683352606,592,180
rs38683352706,588,688
rs38683352806,588,686
rs38683352906,588,629
rs38683353006,645,324
rs38683353136,587,205
rs38683353206,587,159
rs38683353306,587,159
rs38683353406,565,353
rs38683353506,558,680
rs38683353606,558,659
rs38683353706,558,615
rs38683353806,556,275
rs38683353906,556,257
rs38683354006,556,250
rs38683354106,556,200
rs38683354206,556,173
rs38683354306,556,169
rs38683354406,556,159
rs38683354506,554,783
rs38683354606,554,770
rs38683354706,554,726
rs38683354806,554,715
rs3868335498.86,554,703
rs3868335508.86,554,700
rs38683355106,554,691
... further results

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