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GALT deficiency
GALT deficiency Lack of the enzyme called GALT (galactose-1-phosphate uridyl transferase) which causes the genetic metabolic disease galactosemia, one of the diseases in many newborn screening panels. The disease can be fatal, if undetected. If detected, it can be treated by avoiding galactose in the diet. Galactosemia is inherited as an autosomal recessive trait. There are two forms of the disease, GALT deficiency (classic galactosemia) and galactose kinase deficiency. Of the two, the GALT deficiency is the most severe. The GALT gene is in chromosome 9p13.
RELATED TERMS--------------------------------------
Enzyme
A cellular protein whose shape allows it to hold together several other molecules in close proximity to each other. In this way, enzymes are able to induce chemical reactions in other substances with little expenditure of energy and without being changed themselves. Basically, an enzyme acts as a catalyst.
GALT
The enzyme (galactose-1-phosphate uridyl transferase) lack of which causes the genetic metabolic disease called galactosemia. GALT is also the symbol for the gene that encodes the enzyme.
Genetic
Hereditary. Having to do with the genes.
Disease
Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the rubella (German measles) virus.
Galactosemia
A disease present at birth caused by a genetic lack of an enzyme needed to metabolize galactose into glucose. May result in mental retardation, cataracts and liver damage.
Screening
Testing for disease in people without symptoms.
Galactose
A type of sugar found in milk products and sugar beets. It is also made by the body. It is considered a nutritive sweetener because it has calories.
Diet
In nutrition, the diet is the sum of the food consumed by a body. Proper nutrition for a human requires vitamins, minerals, proteins, and fuel in the form of carbohydrates and fats. Imbalances between the consumed fuels and expended energy results in either starvation or excessive reserves of adipose tissue, or body fat
Autosomal
"Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes. People normally have 22 pairs of autosomes (44 autosomes) in each cell together with two sex chromosomes (X and Y in the male and XX in the female). "
Gene
1. A unit of DNA that carries information for the biosynthesis of a specific product in the cell. 2. Ultimate unit by which inheritable characteristics are transmitted to succeeding generations in all living organisms. Genes are contained by, and arranged along the length of, the chromosome. The gene is composed of deoxyribonucleic acid (DNA). Each chromosome of each species has a definite number and arrangement of genes, which govern both the structure and metabolic functions of the cells and thus of the entire organism.
Chromosome
A structural unit within a eukaryotic nucleus that carries genes. A chromosome consists of a long, continuous strand of DNA and associated proteins.
SIMILAR TERMS--------------------------------------
GALT
The enzyme (galactose-1-phosphate uridyl transferase) lack of which causes the genetic metabolic disease called galactosemia. GALT is also the symbol for the gene that encodes the enzyme.
PREVIOUS AND NEXT TERMS--------------------------------------
Gallop rhythm
Heart rhythm like the gallop of a horse.
Gallstone pancreatitis
Gallstone-induced pancreatitis. Pancreatitis due to gallstones.
Gallstones and ERCP
ERCP (endoscopic retrograde cholangiopancreatography) is a diagnostic procedure done to look for diseases of the liver, bile ducts and pancreas. A flexible tube is put down the throat, through the stomach, and into the small intestine. The doctor can see through the tube and inject dye into the drainage tube (duct) of the pancreas so that the area can be seen more clearly on an x-ray. The ERCP test is uncomfortable but not painful. It is performed under intravenous sedation, usually without general anesthesia, and has a low incidence of complications. ERCP can provide important information unobtainable by other diagnostic means. Therapeutic measures can often be take at the time of ERCP to remove stones in the bile ducts or to relieve obstruction of the bile ducts, so that traditional open surgeries can be avoided. ERCP is increasingly accepted as the diagnostic and therapeutic procedure of choice in identifying and removing gallstones from the bile ducts.
Gallstones, microscopic
A mixture of microscopic particulate matter in bile, also called biliary sludge, that occurs when particles of material precipitate from bile. (Bile is the fluid that is made by the liver. It is stored in the gallbladder until after a meal when it passes out of the gallbladder and through the common bile duct into the intestine to help digest fat in the meal.)
GALT
The enzyme (galactose-1-phosphate uridyl transferase) lack of which causes the genetic metabolic disease called galactosemia. GALT is also the symbol for the gene that encodes the enzyme.
GALT deficiency
Gametic
Pertaining to the gamete (the sperm or eggs).
Gametic selection
Preferential selection of gametes (germ cells -- sperm or eggs). Gametic selection is a mechanism of transmission distortion.
Gametogenesis
The development and production of the male and female germ cells required to form a new individual. The male and female germ cells are called gametes. The gametes in human males are produced by the testes, two globe-shaped reproductive organs just below the penis. Male gametes are what most people refer to as sperm. Gametes in human females are produced by the ovaries, two oblong organs on each side of the uterus in the lower abdomen. Female gametes are what most people refer to as eggs or ova. During sexual intercourse, an ejaculated sperm cell penetrates an egg and unites with it (fertilizes it). The fertilized egg is called the zygote.
Gametophobia
An abnormal and persistent fear of being married. Sufferers of gametophobia experience undue anxiety even though they may rationally realize that the married state itself poses no threat to them. They may fear the challenge of living with another person and the responsibility of rearing a family. Or they may worry about failing as a sexual partner.
Gamma hydroxybutyrate (GHB)
Known in Europe as Gamma-OH, gamma hydroxybutyrate is a colorless and odorless drug used illicitly for "recreational" purposes and for "date rape." GBH is a central nervous system depressant. It tends therefore to increase sociability and function as something of a transient antidepressant.
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