Microassay for estimation of galactose and galactose-1-phosphate in dried blood specimens

(a) AChE, Na+,K+-ATPase and Mg2+-ATPase activities were determined to be decreased in poorly controlled patients with classical galactosaemia. (b) The enzyme activities were inversely correlated with the Gal-1-P blood levels. (c) Since Na+,K+-ATPase in the erythrocyte membranes is the isomer of Na+,K+-ATPase distributed in many tissues and in the brain, evaluation of the enzyme activity in the erythrocytes could be a useful peripheral marker of Gal-1-P toxicity.

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“…Lower limit of Gal+Gal‐1‐P identification was 0.5 mg/dl. Interassay and intra‐assay variations were 3.2% and 3.9%, respectively 19.…”

Section: Methodsmentioning

confidence: 98%

Erythrocyte membrane acetylcholinesterase, Na⁺, K⁺‐ATPase and Mg²⁺‐ATPase activities in patients with classical galactosaemia

2005

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“…The concentration of galactose-1-phosphate can be then calculated from the difference between the concentrations of total galactose (t-Gal) and D'/ galactose. Intra-assay and interassay variations were 4.2% and 3.5%, respectively [19].…”

Section: Microassay For Estimation Of Blood Gal'/gal-1-p In Guthrie Cmentioning

confidence: 97%

8-hydroxy-2-desoxyguanosine serum concentrations as a marker of DNA damage in patients with classical galactosaemia

Schulpis¹,

Papassotiriou²,

Tsakiris³

2006

Acta Paediatrica

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“…Gal and Gal‐1‐P were quantified in DBS . The detection limit at our laboratory was 0.1 mmol/l (reference value <0.1 mmol/l) for both analytes.…”

Section: Analysis Of the Galt Genementioning

confidence: 94%

Heterogeneity of disease‐causing variants in the Swedish galactosemia population: Identification of 16 novel GALT variants

Ohlsson

Hunt²,

Wedell

et al. 2019

J of Inher Metab Disea

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The aim was to determine disease‐causing variants in the GALT gene which codes for the enzyme galactose‐1‐phosphate uridylyltransferase. Loss of activity of this enzyme causes classical galactosemia—a life threatening, treatable disorder, included in the Swedish newborn screening program since 1967. A total of 66 patients with the disease are known in Sweden and 56 index patients were investigated. An additional two patients with Duarte galactosemia were included. The disease‐causing variants were identified in all patients. As reported from other countries only a few variants frequently recur in severe disease. The two variants p.(Gln188Arg) (c.563A>G) and p.(Met142Lys) (c.425T>A) are present in several index patients whereas the remaining are found in one to three patients each. The most common variant, p.(Gln188Arg), has an allele frequency of 51% in the cohort. A total of 16 novel variants were found among the 33 different variants in the cohort. Two of these are synonymous variants affecting splicing, demonstrating the importance of the evaluation of synonymous variants at the cDNA level. Concise sentence: Galactosemia is a rare disease in Sweden and the disease‐causing variants are heterogenous including two synonymous variants.

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Microassay for estimation of galactose and galactose-1-phosphate in dried blood specimens

Cited by 22 publications

References 6 publications

Erythrocyte membrane acetylcholinesterase, Na⁺, K⁺‐ATPase and Mg²⁺‐ATPase activities in patients with classical galactosaemia

Erythrocyte membrane acetylcholinesterase, Na⁺, K⁺‐ATPase and Mg²⁺‐ATPase activities in patients with classical galactosaemia

8-hydroxy-2-desoxyguanosine serum concentrations as a marker of DNA damage in patients with classical galactosaemia

Heterogeneity of disease‐causing variants in the Swedish galactosemia population: Identification of 16 novel GALT variants

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Microassay for estimation of galactose and galactose-1-phosphate in dried blood specimens

Cited by 22 publications

References 6 publications

Erythrocyte membrane acetylcholinesterase, Na+, K+‐ATPase and Mg2+‐ATPase activities in patients with classical galactosaemia

Erythrocyte membrane acetylcholinesterase, Na+, K+‐ATPase and Mg2+‐ATPase activities in patients with classical galactosaemia

8-hydroxy-2-desoxyguanosine serum concentrations as a marker of DNA damage in patients with classical galactosaemia

Heterogeneity of disease‐causing variants in the Swedish galactosemia population: Identification of 16 novel GALT variants

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Erythrocyte membrane acetylcholinesterase, Na⁺, K⁺‐ATPase and Mg²⁺‐ATPase activities in patients with classical galactosaemia

Erythrocyte membrane acetylcholinesterase, Na⁺, K⁺‐ATPase and Mg²⁺‐ATPase activities in patients with classical galactosaemia