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Galactokinase deficiency

Galactokinase Deficiency Galactose 1-Phosphate Uridyltransferase Deflcieucy... [Pg.171]

Galactokinase is the enzyme deficient in galactokinase deficiency (MIM 230 200). This disorder is caused by impairment of the pathway step from galactose to galactose-1 -phosphate. [Pg.421]

Table 4.6.1 Reagent mix for detection of galactokinase deficiency. BME (2-Mercaptoethanol)... Table 4.6.1 Reagent mix for detection of galactokinase deficiency. BME (2-Mercaptoethanol)...
Gitzelmann R (1967) Hereditary galactokinase deficiency, a newly recognized cause of juvenile cataracts. Pediatr Res 1 14-23... [Pg.470]

Mayes JS, Guthrie R (1968) Detection of heterozygotes for galactokinase deficiency in a human population. Biochem Genet 2 219-230... [Pg.470]

GALACTOKINASE DEFICIENCY This causes galactosemia and galactosuria. [Pg.139]

Answer In galactokinase deficiency, galactose accumulates in UDP-glucose galactose 1-phosphate uridylyltransferase deficiency, galactose 1-phosphate accumulates (see Fig. 14-12). The latter metabolite is clearly more toxic. [Pg.153]

Defects in any of the three enzymes in this pathway cause galactosemia in humans. In galactokinase-deficiency galactosemia, high galactose concentrations are found in blood and urine. Infants develop cataracts, caused by deposition of the galactose metabolite galac-titol in the lens. [Pg.537]

Note 1, galactosaemia 2, galactokinase deficiency 3, iactose intoierance 4, whole protein intolerance 5, short bowel syndrome ... [Pg.394]

A disease with similar symptoms occurs in galactokinase deficiency. In both cases, galactose accumulates and it is reduced to galactitol by aldose reductase. [Pg.49]

Gitzelmann, R., Auricchio, S. The handling of soya alpha-galactosides by a normal and a galactosemic child. Pediatrics 36, 231-235 (1965) Gitzelmann, R., Curtius, H.C., Muller, M. Galactitol excretion in the urine of a galactokinase-deficient man. Biochem. biophys. Res. Commun. 22, 437 41 (1966)... [Pg.242]

In the Swiss variant , better termed galactokinase deficiency, reaction 1 is blocked [24]. Hence galactose accumulates but Gal-l-P does not. Galactose and galactitol are... [Pg.222]

Galactokinase deficiency (7), galactosemia (8) Hereditary fructose intolerance (9), fructose-1, 6-diphosphatase deficiency (10) Sucrase-isomadtase deficiency (11)... [Pg.645]

See other pages where Galactokinase deficiency is mentioned: [Pg.35]    [Pg.473]    [Pg.142]    [Pg.174]    [Pg.889]    [Pg.298]    [Pg.234]    [Pg.237]    [Pg.315]    [Pg.339]    [Pg.680]    [Pg.654]   
See also in sourсe #XX -- [ Pg.35 ]

See also in sourсe #XX -- [ Pg.473 ]

See also in sourсe #XX -- [ Pg.21 ]

See also in sourсe #XX -- [ Pg.889 ]

See also in sourсe #XX -- [ Pg.49 ]

See also in sourсe #XX -- [ Pg.222 ]



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Galactokinase

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