関: Uridine diphosphate galactose

English Journal

Galactosemia: When is it a newborn screening emergency?

Berry GT.AbstractClassic galactosemia is an autosomal recessive disorder of carbohydrate metabolism, due to a severe deficiency of the enzyme, galactose-1-phosphate uridyltransferase (GALT), that catalyzes the conversion of galactose-1-phosphate and uridine diphosphate glucose (UDPglucose) to uridine diphosphate galactose (UDPgalactose) and glucose-1-phosphate. Upon consumption of lactose in the neonatal period, the affected infants develop a potentially lethal disease process with multiorgan involvement. Since the advent of newborn screening (NBS) for galactosemia, we rarely encounter such overwhelmingly ill newborns. After ascertainment that the positive NBS indicates the possibility of galactosemia due to GALT deficiency, the critical question for the physician is whether the infant has the classic or a variant form of GALT deficiency, as classic galactosemia is a medical emergency. However, there are over 230 GALT gene mutations that have been detected around the world. Yet, most positive NBS tests are due to the Duarte biochemical variant condition or a simple false positive. In order to make the correct decision as well as provide informative counseling to parents of infants with a positive NBS, I utilize a relatively simple classification scheme for GALT deficiency. There are three basic forms of GALT deficiency: 1) classic galactosemia; 2) clinical variant galactosemia; and 3) biochemical variant galactosemia. The classic genotype is typified by Q188R/Q188R, the clinical variant by S135L/S135L and the biochemical variant by N314D/Q188R. In classic galactosemia, the erythrocyte GALT enzyme activity is absent or markedly reduced, the blood galactose and erythrocyte galactose-1-phosphate levels are markedly elevated, and the patient is at risk to develop potentially lethal E. coli sepsis, as well as the long-term diet-independent complications of galactosemia. Patients with the clinical variant form require treatment but do not die from E. coli sepsis in the neonatal period. If the clinician suspects galactosemia, even if based on clinical findings alone, then the infant should be immediately placed on a lactose-restricted diet. The purpose of this review is to help the clinician make the correct therapeutic decision after an NBS test has returned positive for galactosemia.
Molecular genetics and metabolism.Mol Genet Metab.2012 Mar 21. [Epub ahead of print]
Classic galactosemia is an autosomal recessive disorder of carbohydrate metabolism, due to a severe deficiency of the enzyme, galactose-1-phosphate uridyltransferase (GALT), that catalyzes the conversion of galactose-1-phosphate and uridine diphosphate glucose (UDPglucose) to uridine diphosphate gal
PMID 22483615

Evolution of milk oligosaccharides and lactose: a hypothesis.

Urashima T, Fukuda K, Messer M.Source1Department of Animal Hygiene, Graduate School of Food Hygiene, Obihiro University of Agriculture and Veterinary Medicine, Obihiro, Hokkaido, 080-8555, Japan.
Animal : an international journal of animal bioscience.Animal.2012 Mar;6(3):369-74.
Mammalian milk or colostrum contains up to 10% of carbohydrate, of which free lactose usually constitutes more than 80%. Lactose is synthesized within lactating mammary glands from uridine diphosphate galactose (UDP-Gal) and glucose by a transgalactosylation catalysed by a complex of β4-galactosylt
PMID 22436215

Japanese Journal

アサガオのラクト-ス耐性および非耐性株における生理的差異〔英文〕

久島繁 [他],渡辺恒夫,新井勇治,THORPE Trevor A.
植物組織培養 2(2), 52-58, 1985
… In both types of cells the activities of lactase, UDPgalppase, UDPGppase and UDPgal epimerase were present. … However, UDPgal epimerase activity in these cells was very low and cell wall lactase activity was about 30% of that of the lactose-adapted cells. … UDPG and UDPgal contents increased about 1.5 times and only marginally, respectively, over those of sucrose-grown original cells. …
NAID 130001065562

The Production of UDP-Galactose by Torulopsis candida IFO 0768 Grown on a Glucose Medium

Kawano Hiroshi,Fujimoto Kouhei,Higuchi Mitsuru [他],ENDO KINJI
Journal of fermentation technology 59(6), 457-464, 1981-12-25
… Torulopsis candida IFO 0768 grown on a glucose medium can serve as an effective enzyme source not only for the production of UDP-glucose (UDPG) from UMP and glucose, but also for the production of UDP-galactose (UDPGal) from UMP and galactose. … It is characteristic of UDPGal formation by the glucose-grown cells that large amounts of UDPG accumulate transiently, followed by the gradual appearance of UDPGal with the decrease of UDPG. …
NAID 110002672619

酵母のATPエネルギ-を利用するバイオリアクタ---発酵化学エネルギ-の合成への利用 (「80年代有機合成化学工業における技術革新」特集号)

栃倉辰六郎 [他],立木隆,矢野俊博,門脇節
有機合成化学協会誌 39(6), 487-498, 1981
… An efficient method was developed for the fermentative production of UDP-glucose (UDPG), UDP-galactose (UDPGal), GDP-mannose (GDPM) and UDP-<I>N</I>-acetylglucosamine (UDPGlcNAc) from the corresponding nucleoside 5'-monophosphates by the use of the energy generated through the glycolysis or respiration of various yeasts. …
NAID 130000923665

Related Pictures

Difosfato Galactosa; UDP Galactosa; UDPGal UDPGal UDPGalFosfogliceromutaseGlic-6-P Difosfato Galactose; UDP Galactose; UDPGal UDPGal pirofosforilase PP PPUDPGalUDPG GALE se produce un acúmulo de UDPGal glucose (UDPglu), UDP-galactose (UDPgal