Page last updated: 2024-10-06

Galactosemia

Proteins (12)

ProteinSynonymsTaxonomy
Beta-galactosidaseEC 3.2.1.23; Acid beta-galactosidase; Lactase; Elastin receptor 1Homo sapiens (human)
Alpha-galactosidase AEC 3.2.1.22; Alpha-D-galactosidase A; Alpha-D-galactoside galactohydrolase; Galactosylgalactosylglucosylceramidase GLA; 3.2.1.47; MelibiaseHomo sapiens (human)
Lactase-phlorizin hydrolaseLactase-glycosylceramidaseHomo sapiens (human)
Lysosomal alpha-glucosidaseEC 3.2.1.20; Acid maltase; Aglucosidase alfaHomo sapiens (human)
Aldo-keto reductase family 1 member B1EC 1.1.1.300; EC 1.1.1.372; EC 1.1.1.54; Aldehyde reductase; Aldose reductase; AR; 1.1.1.21Homo sapiens (human)
UDP-glucose 4-epimeraseEC 5.1.3.2; Galactowaldenase; UDP-N-acetylgalactosamine 4-epimerase; UDP-GalNAc 4-epimerase; UDP-N-acetylglucosamine 4-epimerase; UDP-GlcNAc 4-epimerase; 5.1.3.7; UDP-galactose 4-epimeraseHomo sapiens (human)
Glucose-6-phosphataseG-6-Pase; G6Pase; EC 3.1.3.9; Glucose-6-phosphatase alpha; G6Pase-alphaHomo sapiens (human)
Beta-1,4-galactosyltransferase 1Beta-1,4-GalTase 1; Beta4Gal-T1; b4Gal-T1; EC 2.4.1.-; Beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase; Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase; 2.4.1.38; Lactose synthase A protein; 2.4.1.22; N-acetyllactoHomo sapiens (human)
Hexokinase-1EC 2.7.1.1; Brain form hexokinase; Hexokinase type I; HK I; Hexokinase-AHomo sapiens (human)
Galactose-1-phosphate uridylyltransferaseGal-1-P uridylyltransferase; EC 2.7.7.12; UDP-glucose--hexose-1-phosphate uridylyltransferaseHomo sapiens (human)
Phosphoglucomutase-1PGM 1; EC 5.4.2.2; Glucose phosphomutase 1Homo sapiens (human)
UTP--glucose-1-phosphate uridylyltransferaseEC 2.7.7.9; UDP-glucose pyrophosphorylase; UDPGP; UGPaseHomo sapiens (human)

Compounds (24)

CompoundDescription
Orthophosphate
NADH
galactoseAn aldohexose that occurs naturally in the D-form in lactose, cerebrosides, gangliosides, and mucoproteins. Deficiency of galactosyl-1-phosphate uridyltransferase (GALACTOSE-1-PHOSPHATE URIDYL-TRANSFERASE DEFICIENCY DISEASE) causes an error in galactose metabolism called GALACTOSEMIA, resulting in elevations of galactose in the blood.
sorbitolA polyhydric alcohol with about half the sweetness of sucrose. Sorbitol occurs naturally and is also produced synthetically from glucose. It was formerly used as a diuretic and may still be used as a laxative and in irrigating solutions for some surgical procedures. It is also used in many manufacturing processes, as a pharmaceutical aid, and in several research applications.
GlucoseA primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used therapeutically in fluid and nutrient replacement.
Adenosine TriphosphateAn adenine nucleotide containing three phosphate groups esterified to the sugar moiety. In addition to its crucial roles in metabolism adenosine triphosphate is a neurotransmitter.
sucroseA nonreducing disaccharide composed of GLUCOSE and FRUCTOSE linked via their anomeric carbons. It is obtained commercially from SUGARCANE, sugar beet (BETA VULGARIS), and other plants and used extensively as a food and a sweetener.
adenosine diphosphateAdenosine 5'-(trihydrogen diphosphate). An adenine nucleotide containing two phosphate groups esterified to the sugar moiety at the 5'-position.
uridine diphosphateA uracil nucleotide containing a pyrophosphate group esterified to C5 of the sugar moiety.
uridine triphosphateUridine 5'-(tetrahydrogen triphosphate). A uracil nucleotide containing three phosphate groups esterified to the sugar moiety.
glycerolA trihydroxy sugar alcohol that is an intermediate in carbohydrate and lipid metabolism. It is used as a solvent, emollient, pharmaceutical agent, or sweetening agent.
inositolAn isomer of glucose that has traditionally been considered to be a B vitamin although it has an uncertain status as a vitamin and a deficiency syndrome has not been identified in man. (From Martindale, The Extra Pharmacopoeia, 30th ed, p1379) Inositol phospholipids are important in signal transduction.
WaterA clear, odorless, tasteless liquid that is essential for most animal and plant life and is an excellent solvent for many substances. The chemical formula is hydrogen oxide (H2O). (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
galactinol
galactose-1-phosphate
uridine diphosphate galactoseA nucleoside diphosphate sugar which can be epimerized into UDPglucose for entry into the mainstream of carbohydrate metabolism. Serves as a source of galactose in the synthesis of lipopolysaccharides, cerebrosides, and lactose.
mannoseA hexose or fermentable monosaccharide and isomer of glucose from manna, the ash Fraxinus ornus and related plants. (From Grant & Hackh's Chemical Dictionary, 5th ed & Random House Unabridged Dictionary, 2d ed)
glucose-1-phosphateRN given refers to (alpha-D-Glc)-isomer
stachyoseRN given refers to parent cpd
NADA coenzyme composed of ribosylnicotinamide 5'-diphosphate coupled to adenosine 5'-phosphate by pyrophosphate linkage. It is found widely in nature and is involved in numerous enzymatic reactions in which it serves as an electron carrier by being alternately oxidized (NAD+) and reduced (NADH). (Dorland, 27th ed)
Glucose-6-PhosphateAn ester of glucose with phosphoric acid, made in the course of glucose metabolism by mammalian and other cells. It is a normal constituent of resting muscle and probably is in constant equilibrium with fructose-6-phosphate. (Stedman, 26th ed)
galactitolA naturally occurring product of plants obtained following reduction of GALACTOSE. It appears as a white crystalline powder with a slight sweet taste. It may form in excess in the lens of the eye in GALACTOSEMIAS, a deficiency of GALACTOKINASE.
pyrophosphate
glucoseA primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used therapeutically in fluid and nutrient replacement.