Diseases
Glut2 deficiency
Glut2 deficiency (medical condition): A rare inherited disorder where the impaired metabolism of carbohydrates results in a build-up of glycogen in the liver.
Glutamate decarboxylase deficiency
Glutamate decarboxylase deficiency: A rare disorder of amino acid metabolism characterized by a deficiency of the enzyme called glutamate decarboxylase which causes seizures that will only respond to pyridoxine (vitamin B6).
Glutamate formiminotransferase deficiency
Glutamate formiminotransferase deficiency is an inherited metabolic disorder that affects physical and mental development. There are two forms of this condition, a mild form and a sever form.
People with the mild form have minor delays in physical and mental development and may have mild intellectual disability. They also have unusually high levels of a molecule called formiminoglutamate (FIGLU) in their urine.
Individuals with the severe form have profound intellectual disability, delayed development of motor skills (sitting, standing, and walking) and megaloblastic anemia. In addition to FIGLU in their urine, they have elevated amounts of certain B vitamins (called folates) in their blood.
The severe form of glutamate formiminotransferase deficiency is also characterized by megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic). The symptoms of this blood disorder may include decreased appetite, lack of energy, headaches, pale skin, and tingling or numbness in the hands and feet.
Glutamate formiminotransferase deficiency is a rare disorder; approximately 20 affected individuals have been identified. Of these, about one-quarter have the severe form of the disorder. Everyone reported with the severe form has been of Japanese origin. The remaining individuals, who come from a variety of ethnic backgrounds, are affected by the mild form of the condition.
Glutamate-aspartate transport defect
Glutamate and aspartate transport defect (medical condition): A rare metabolic syndrome involving a defect in the transport of certain amino acids (glutamate, aspartate) and resulting in high levels of dicarboxylic amino acids in the urine. Often no observable symptoms occur.
Glutamine deficiency- congenital
Glutamine deficiency, congenital: A rare genetic metabolic disorder characterized by a deficiency of the glutamine synthase enzyme. This results in a lack of glutamine in the serum, urine and brain and spinal fluid. The condition results in infant death within weeks of birth.
Glutamine deficiency- congenital
Glutamine deficiency, congenital: A rare genetic metabolic disorder characterized by a deficiency of the glutamine synthase enzyme. This results in a lack of glutamine in the serum, urine and brain and spinal fluid. The condition results in infant death within weeks of birth.
Glutaric aciduria 1
Glutaric acidemia type 1 (or "Glutaric Aciduria", "GA1", or "GAT1") is an inherited disorder in which the body is unable to break down completely the amino acids lysine, hydroxylysine and tryptophan. Excessive levels of their intermediate breakdown products (glutaric acid, glutaryl-CoA, 3-hydroxyglutaric acid, glutaconic acid) can accumulate and cause damage to the brain (and also other organs[1]), but particularly the basal ganglia, which are regions that help regulate movement. GA1 causes secondary carnitine deficiency, as glutaric acid, like other organic acids, is detoxified by carnitine. Mental retardation may also occur.
Glutaric aciduria 2
Glutaric aciduria type II: A rare disorder of amino acid metabolism characterized by a defect in the enzyme ETF (electron transfer flavenoid) or ETF dehydrogenase. The condition causes variable symptoms.
Glutathione synthetase deficiency
Glutathione Synthetase Deficiency: An inborn error of metabolism where insufficient glutathione is produced. Glutathione is an antioxidant which helps destroy unstable molecules that can cause damage to cells and helps develop certain cell components. The condition is due to insufficient glutathione synthetase enzyme. The condition may range from mild, resulting in excessive destruction of red blood cells, to severe which includes neurological symptoms.
Glutathionuria
Glutathionuria: A very rare inborn error of metabolism where insufficient gamma-glutamyl transpepidase causes excess glutathione levels in the body.
Glyceraldehyde-3-phosphate dehydrogenase deficiency
Glyceraldehyde-3-phosphate dehydrogenase deficiency: A rare genetic syndrome characterized by a deficiency of an enzyme (Glyceraldehyde-3-phosphate dehydrogenase) which is involved in breaking down carbohydrates consumed in the diet in order to produce energy.
Glycine encephalopathy
Glycine encephalopathy (medical condition): A rare disorder of amino acid metabolism where glycine and proline are unable to be metabolized properly due to defects in the glycine cleavage system. See also Non-ketotic hyperglycinemia: »Introduction: Non-ketotic hyper
Glycine synthase deficiency
Glycine synthase deficiency: A rare genetic disorder characterized by high blood glycine levels which is toxic to the body. The severity of the condition varies according to the degree of deficiency and age of onset. The classical neonatal form is generally quite severe, the atypical mild form which generally includes symptoms such as aggressiveness, behavioral problems and speech problems. The transient neonatal form involves high blood glycine levels at birth which then returns to normal within a couple of months - there was no neurological or developmental impairment.
Glycogen storage disease type 1B
Glycogen storage disease type 1b (medical condition): A metabolic disorder involving a deficiency of glucose-6-phosphatase (due to a G6P transporter defect) which results in the accumulation of glycogen in various tissues and a reduced blood sugar level. The condition is characterized primarily by an increased risk of bacterial infections due to impaired neutrophil activity which is needed to fight bacterial invasions.
Glycogen storage disease type 1C
Glycogen storage disease type 1C: A genetic metabolic disorder involving a deficiency of the enzyme glucose-6-phosphatase (due to a defect in the microsomal phosphate) which results in the accumulation of glycogen in various tissues. G6P is stored as glycogen until the body needs to convert it to a sugar for energy. The enzyme deficiency prevents the conversion and hence low blood sugar levels result.
Glycogen storage disease type 1D
Glycogen storage disease type 1D: A genetic metabolic disorder involving a deficiency of the enzyme glucose-6-phosphatase (due to a defect in the microsomal glucose transporter) which results in the accumulation of glycogen in various tissues. G6P is stored as glycogen until the body needs to convert it to a sugar for energy. The enzyme deficiency prevents the conversion and hence low blood sugar levels result.
Glycogen storage disease type 2B
Glycogen storage disease type 2B or Danon disease: A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (glycogen) in body tissues due to the deficiency of an enzyme (glucosidase or acid maltase) needed to break it down. Type IIB usually starts during childhood.
Glycogen storage disease type 3
Glycogen storage disease type III (also known as GSDIII or Cori disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles.
GSDIII is divided into types IIIa, IIIb, IIIc, and IIId, which are distinguished by their pattern of signs and symptoms. GSD types IIIa and IIIc mainly affect the liver and muscles, and GSD types IIIb and IIId typically affect only the liver. It is very difficult to distinguish between the types of GSDIII that affect the same tissues. GSD types IIIa and IIIb are the most common forms of this condition.
Glycogen storage disease type 4
A glycogen storage disease (GSD) is the result of an enzyme defect. These enzymes normally catalyze reactions that ultimately convert glycogen compounds to glucose. Enzyme deficiency results in glycogen accumulation in tissues. In many cases, the defect has systemic consequences, but in some cases, the defect is limited to specific tissues. Most patients experience muscle symptoms such as weakness and cramps, although certain GSDs manifest as specific syndromes, such as hypoglycemic seizures or cardiomegaly.
Glycogen storage disease type 5
Consisting of at least eight distinct errors of metabolism — all inherited — glycogen storage disease alters the synthesis or degradation of glycogen, the form in which glucose is stored in the body. Normally, muscle and liver cells store glycogen. Muscle glycogen is used in muscle contraction; liver glycogen can be converted into free glucose, which can then diffuse out of the liver cells to increase blood glucose levels. Glycogen storage disease manifests as a dysfunction of the liver, heart, or musculoskeletal system. Symptoms vary from mild and easily controlled hypoglycemia to severe organ involvement that may lead to cardiac and respiratory failure.
Glycogen storage disease type 6
Glycogen storage disease type 6: A rare, generally mild form of inherited glycogen storage disease where a deficiency of phosphorylase b kinase leads to hypoglycemia and accumulation of glycogen in the liver.
Glycogen storage disease type 6- due to phosphorylation
Glycogen storage disease type VI, due to phosphorylation (medical condition): A rare, generally mild form of inherited glycogen storage disease where a deficiency of phosphorylase b kinase leads to hypoglycemia and accumulation of glycogen in the liver.
Glycogen storage disease type 7
Glycogen storage disease type 7: An inherited metabolic disorder where there is a deficiency of phosphofructokinase-1 in the muscle and a partial deficiency in red blood cells which prevents glucose being converted to energy during exercise.
Glycogenosis type 2
Glycogenosis type 2: A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (glycogen) in body tissues due to the deficiency of an enzyme (?-glucosidase or acid maltase) needed to break it down. The severity of the condition is variable and onset may occur during infancy, childhood or adulthood.
Glycogenosis type 3
Glycogenosis type III is resulted from deficiency of the debranching enzyme amylo-1,6-glucosidase. It involves muscle, liver, heart, and rarely peripheral nerve. There is hypoglycemia and sometimes chronic hyperuricemia. The clinical manifestations are mild and therefore glycogenosis type III is compatible with long term survival and close to normal daily life.
Glycogenosis type 4
Glycogenosis type IV (medical condition): An rare inborn error of metabolism involving glycogen storage and characterized by cirrhosis and sometimes liver failure. Lack of the amyl-transglucosidase enzyme and abnormal glycogen causes the condition.
Glycogenosis type 5
Summary: McArdle’s disease is resulted from the deficiency of the muscle isoform of glycogen phosphorylase (myophosphorylase). This is the first myopathy in which a single enzyme defect was demonstrated. It is also entirely restricted to muscle. Other than the fatal infantile form, McArdle’s disease is compatible with long-term survival. It is classically associated with life long exercise intolerance. The initial symptoms are mild and patient may be carrying a label of “lazyness”. Later symptoms include muscle cramps after exercise, myoglobinuria, and, in later course of the disease, muscle wasting. Severe sternous exercise may cause myoglobinuria that is severe enough to cause acute renal failure. In the past, many cases are not diagnosed until adulthood. Histologically, there is an increased storage of glycogen and absence of phosphorylase activity. The presence of abundance of necrotic and regenerating fibers could qualify this disease as a muscular dystrophy. The biochemical structure of the stored glycogen is normal.
Glycogenosis type 6
A rare, generally mild form of inherited glycogen storage disease where a deficiency of phosphorylase b kinase leads to hypoglycemia and accumulation of glycogen in the liver.
Glycogenosis type 7
An inherited metabolic disorder where there is a deficiency of phosphofructokinase-1 in the muscle and a partial deficiency in red blood cells which prevents glucose being converted to energy during exercise.