D-Glyceric Acidemia is an inherited disease, in the category of inborn errors of metabolism. It is caused by a mutation

Mutation

In molecular biology and genetics, mutations are changes in a genomic sequence: the DNA sequence of a cell's genome or the DNA or RNA sequence of a virus. They can be defined as sudden and spontaneous changes in the cell. Mutations are caused by radiation, viruses, transposons and mutagenic...

 in the gene

Gene

A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...

 GLYCTK, which encodes the for the enzyme glycerate kinase

Glycerate kinase

In enzymology, a glycerate kinase is an enzyme that catalyzes the chemical reactionThus, the two substrates of this enzyme are ATP and -glycerate, whereas its two products are ADP and 3-phospho--glycerate....

.

Pathophysiology

Glycerate kinase is an enzyme

Enzyme

Enzymes are proteins that catalyze chemical reactions. In enzymatic reactions, the molecules at the beginning of the process, called substrates, are converted into different molecules, called products. Almost all chemical reactions in a biological cell need enzymes in order to occur at rates...

 that catalyzes the conversion of D-glyceric acid (a.k.a. D-glycerate) to 2-phosphoglycerate

2-Phosphoglycerate

2-Phosphoglyceric acid , or 2-phosphoglycerate, is a glyceric acid which serves as the substrate in the ninth step of glycolysis. It is catalyzed by enolase into phosphoenolpyruvate , the penultimate step in the conversion of glucose to pyruvate.-In Glycolysis: -References:...

. This conversion is an intermediary reaction found in several metabolic pathways, including the degradation (break-down; catabolism

Catabolism

Catabolism is the set of metabolic pathways that break down molecules into smaller units and release energy. In catabolism, large molecules such as polysaccharides, lipids, nucleic acids and proteins are broken down into smaller units such as monosaccharides, fatty acids, nucleotides, and amino...

) of serine

Serine

Serine is an amino acid with the formula HO2CCHCH2OH. It is one of the proteinogenic amino acids. By virtue of the hydroxyl group, serine is classified as a polar amino acid.-Occurrence and biosynthesis:...

, as well as the break-down of fructose

Fructose

Fructose, or fruit sugar, is a simple monosaccharide found in many plants. It is one of the three dietary monosaccharides, along with glucose and galactose, that are absorbed directly into the bloodstream during digestion. Fructose was discovered by French chemist Augustin-Pierre Dubrunfaut in 1847...

.

A deficiency in glycerate kinase activity leads to the accumulation of D-glyceric acid (a.k.a. D-glycerate) in bodily fluids and tissues. D-glyceric acid can be measured in a laboratory that performs "analyte testing" for "organic acids" in blood (plasma

Blood plasma

Blood plasma is the straw-colored liquid component of blood in which the blood cells in whole blood are normally suspended. It makes up about 55% of the total blood volume. It is the intravascular fluid part of extracellular fluid...

) and urine.

Symptoms of the disease (in its most severe form) include progressive neurological impairment, mental/motor retardation, hypotonia

Hypotonia

Hypotonia is a state of low muscle tone , often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength...

, seizures, failure to thrive

Failure to thrive

Failure to thrive is a medical term which is used in both pediatric and adult human medicine, as well as veterinary medicine ....

 and metabolic acidosis

Metabolic acidosis

In medicine, metabolic acidosis is a condition that occurs when the body produces too much acid or when the kidneys are not removing enough acid from the body. If unchecked, metabolic acidosis leads to acidemia, i.e., blood pH is low due to increased production of hydrogen by the body or the...

.http://www.springer.com/life+sciences/biochemistry+%26+biophysics/book/978-3-540-42542-7

Related conditions

NOTE: D-Glyceric Acidemia should not be confused with L-Glyceric Acidemia (a.k.a. L-glyceric aciduria, a.k.a. primary hyperoxaluria

Primary hyperoxaluria

Primary hyperoxaluria results in increased excretion of oxalate, with oxalate stones being common. The oxalalate in these common conditions is derived from dietary sources or is secondary to malabsorption...

 type II http://www.ncbi.nlm.nih.gov/omim/260000), which is associated with mutations in the GRHPR

GRHPR

Glyoxylate reductase/hydroxypyruvate reductase is an enzyme that in humans is encoded by the GRHPR gene.This gene encodes an enzyme with hydroxypyruvate reductase, glyoxylate reductase, and D-glycerate dehydrogenase enzymatic activities. The enzyme has widespread tissue expression and has a role in...

(encoding for the enzyme 'glyoxylate reductase/hydroxypyruvate reductase') http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ph2http://www.ncbi.nlm.nih.gov/omim/604296.

External links

Information regarding D-Glyceric Acidemia and other inherited disorders is constantly changing, with new advances in the understanding of disease mechanisms. For the most up-to-date information on this disorder, the following sites are updated on a fairly regular basis:

• Genetics Home Reference (National Library of Medicine) http://ghr.nlm.nih.gov/gene/GLYCTK (information on D-glyceric acidemia and the GLYCTK gene)

• OMIM http://www.ncbi.nlm.nih.gov/omim/610516 (information on GLYCTK gene, encoding Glycerate Kinase)

• GeneTests http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/22208?db=genetests (information on genetic testing for D-Glyceric Acidemia)