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Galactose- 1-phosphate :uridyl

Activity of Galactose-1-phosphate Uridyl Transferase in Human Liver and Red Blood Cells ... [Pg.32]

Galactose 1-phosphate uridyl transferase deficiency (galactosemia)... [Pg.271]

Galactose 1-phosphate uridyl transferase Galactosemia, vomiting, hepatomegaly, jaundice, cataracts, amino aciduria, failure to thrive long-term complications exist even with early diagnosis and treatment... [Pg.248]

Enzymes, measured in clinical laboratories, lor which kiis arc available include y-glutamyl transferase tGGT). alanine transferase (ALT), aldolase, cr-amylase, aspartate aminotransferase, creatine kinase and its isoenzymes, galactose-1-phosphate uridyl transferase, lipase, mutate dehydrogenase. 5 -nucleotidase. phosphuhexose isomerase. and pyruvate kinase. [Pg.975]

Scheme 4.23 The use of glycosyl transferases in combination with in situ co-factor regeneration. E —galactosyl tranferase E2 — pyruvate kinase E3 = UDP-Glc-pyrophosphorylase E4 = galactose-1-phosphate uridyl transferase E5 = galactokinase. Scheme 4.23 The use of glycosyl transferases in combination with in situ co-factor regeneration. E —galactosyl tranferase E2 — pyruvate kinase E3 = UDP-Glc-pyrophosphorylase E4 = galactose-1-phosphate uridyl transferase E5 = galactokinase.
Figure 5-29. Conversion of galactose to intermediates of glucose metabolism. Galactose 1-phosphate uridyl transferase is deficient in classic galactosemia. Figure 5-29. Conversion of galactose to intermediates of glucose metabolism. Galactose 1-phosphate uridyl transferase is deficient in classic galactosemia.
Higher in the blood of a person with a galactose 1-phosphate uridyl transferase deficiency than in the normal person... [Pg.310]

Jama M, Nelson L, Pont-Kingdon G. etal. Simultaneous amplification, detection, and analysis ofcommon mutations in the galactose-1-phosphate uridyl transferase gene. J Mol Diagn 2007 9 618-23. [Pg.54]

Galactose 1-thiophosphate and UDP-glucose Uridine-5 -0-(2- thiodiphosphogalactose) (UDP(JSS)-Galactose (50%) Galactose-1- Phosphate Uridyl Transferase (E.C. 2.7.7.12) [97]... [Pg.917]

Galactosaemia This delect is present in approximately 1 100 000 babies in the UK. A deficiency of galactose 1-phosphate uridyl transferase means that the baby cannot utilize the galactose component of the lactose which is present in milk. Such infants may present with failure to thrive, vomiting and diarrhoea and if untreated may die in the neonatal period or go on to develop liver disease, mental retardation, cataracts and renal tubular damage... [Pg.62]

Flanagan JM, Tighe O, O Neill C, Naughten E, Mayne PD, Croke DT. Identification of sequence variation in the galactose-1-phosphate uridyl transferase gene by dHPLC. Mol Genet Metab 2004 81 133-136. [Pg.447]

Fridovich-Keil JL, Langley 8D, Mazur LA, Lennon JC, Dembure PP, Elsas JL 2nd. Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyl-transferase gene associated with galactosemia in a single family. Am J Hum Genet 1995 56 640-646. [Pg.447]

Leshe ND, Yager KL, McNamara PD, Segal S. A mouse model of galactose-1-phosphate uridyl transferase deficiency. Biochem Mol Med 1996 59 7-12. [Pg.450]

Rogers S, Heidenieich R, MaUee J, Segal S. Regional activity of galactose-1-phosphate uridyl-transferase in rat brain. PediatrRes 1992 31 512-515. [Pg.453]

See other pages where Galactose- 1-phosphate :uridyl is mentioned: [Pg.167]    [Pg.170]    [Pg.439]    [Pg.53]    [Pg.57]    [Pg.59]    [Pg.483]    [Pg.138]    [Pg.480]    [Pg.65]    [Pg.59]    [Pg.73]    [Pg.656]    [Pg.657]    [Pg.164]    [Pg.165]    [Pg.889]    [Pg.1201]    [Pg.450]    [Pg.451]    [Pg.159]    [Pg.160]    [Pg.383]    [Pg.441]    [Pg.442]    [Pg.443]    [Pg.274]    [Pg.433]   


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Galactose-1-phosphate uridyl transferase deficiency

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Uridyl

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