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1,323 Possible Causes for (galactose), II, enzyme

  • Galactosemia

    The structure of the enzyme from Escherichia coli reveals a homodimer containing one zinc (II) and one iron (II) ion per subunit.[] Enzyme activities in DBSs from 37 normal individuals and 10 patients with enzyme deficiencies were analyzed.[] [Article in English, Spanish] Abstract This study was designed to determine the activity of galactose-1-phosphate uridyltransferase enzyme in a family (parents and eight children[]

  • Disorder of Carbohydrate Metabolism

    ., mucopolysaccharidoses (MPS), oligosaccharidoses, type II glycogenosis - single system disorders - direct morphological manifestations - easier to study Anabolic pathways[] The hydroxylase enzyme requires a cofactor called biopterin, which is also a cofactor for other enzymes.[] 6 What is Galactose?[]

  • Classic Galactosemia

    The incidence of type I galactosemia is around 1 in 60,000 newborns, while type II affects fewer than 1 in 100,000 newborns and type III affects fewer still.[] Galactocerebrosides and glucocerebrosides are the primary products of the enzyme UDP-galactose:cerebroside galactosyl transferase (CGT).[] After incubation with galactose-1-14C, there was absence of labelled CO2 production and only labelled galactose-1-phosphate was identified as compared to controls in which[]

  • Glycogen Storage Disease Type 2

    This type of testing, while helpful in determining that Type II GSD is a possible diagnosis, is not diagnostic for Type II GSD.[] In patients in whom GAA is not produced, a status called cross-reacting immunologic material (CRIM)–negative, enzyme-replacement therapy with recombinant human GAA (rhGAA)[] […] of fructose metabolism, unspecified E74.11 Essential fructosuria E74.12 Hereditary fructose intolerance E74.19 Other disorders of fructose metabolism E74.2 Disorders of galactose[]

  • Mucopolysaccharidosis

    Abstract Mucopolysaccharidosis Type II (MPS II) or Hunter Syndrome is a rare X-linked condition, due to a defect in a lysosomal enzyme involved in the breakdown of glycosaminoglycans[] BACKGROUND: Mucopolysaccharidosis I is a lysosomal storage disease caused by a deficiency of the enzyme alpha-L-iduronidase.[] RATIONALE: Mucopolysaccharidosis IVA (Morquio A) is a catabolic mucopolysaccharide disorder caused by galactose-6-sulfate sulfatase deficiency.[]

  • Mucopolysaccharidosis 2

    (MPS II) (Hunter Syndrome) - Dormant Projects Mucopolysaccharidosis II (MPS II) (Hunter Syndrome) - Discontinued Products Mucopolysaccharidosis II (MPS II) (Hunter Syndrome[] In order to evaluate enzyme-replacement therapy for MPS II we have expressed a chimaeric I2S cDNA in CHO (Chinese-hamster ovary)-K1 cells utilizing a plasmid vector that places[] […] acetyltransferase C: 8p11.1 C: 0.07–0.21 D: N -acetylglucosamine 6-sulphatase D: 12q14 D: 0.1 MPS IV A, B (Morquio syndrome) A: keratan sulphate, chondroitin sulphate A: galactose[]

  • Glycogen Storage Disease Type 1

    Glycogen Storage Disease Type II Condition and Symptoms Glycogen Storage Disease Type II, also known as Pompe Disease, is a rare genetic condition that affects approximately[] Double enzyme deficiencies are very rare and possible explanations which might lead to this phenotype are considered.[] An oral galactose tolerance test resulted in lactic acidosis with failure to detect any galactose or rise in concentration of glucose in the blood.[]

  • Glycogen Storage Disease

    BACKGROUND/AIMS: Glycogen storage disease type II (GSD-II) is a lysosomal disorder caused by acid α glucosidase (GAA) deficiency.[] Patients with GSD II receive infusions of recombinant α-glucosidase (enzyme replacement therapy; ERT), which slow the progression of the disease.[] Mass spectrometric glycomic profiling of GSD-Ib neutrophils showed severely truncated N-glycans, lacking galactose.[]

  • Mucolipidosis

    In Mucolipidosis II, fibrocytes exhibit "abnormal lysosomes". Activities of several lysosomal enzymes are low in fibroblast cultures but high in mucolipidosis II serum.[] UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase tags newly synthesized lysosomal enzymes with mannose 6-phosphate recognition markers, which are required for their[] Galactose Restriction (Definition) Milk and milk products contain the sugar galactose.[]

  • Pseudo-Hurler Polydystrophy

    Mucolipidosis II (ML II) and Mucolipidosis type III (ML III) are autosomal recessive disorders of lysosomal hydrolases trafficking due to the deficiency of the multimeric[] […] of a subset of lysosomal enzymes.6.[] […] metabolism ( Galactosemia , Galactose-1-phosphate uridylyltransferase galactosemia , Galactokinase deficiency ) - other intestinal carbohydrate absorption ( Glucose-galactose[]