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Colorimetric determination of galactose and galactose-1-phosphate from dried blood. 1992

F Diepenbrock, and R Heckler, and H Schickling, and T Engelhard, and D Bock, and J Sander
Staatliches, Medizinaluntersuchungsamt, Hannover, Germany.

A colorimetric microassay for the simultaneous quantitative determination of galactose (Gal) and galactose-1-phosphate (Gal-1-P) in dried blood spots is described. An enzymatic reaction involving alkaline phosphatase (EC 3.1.3.1) and galactose dehydrogenase (EC 1.1.1.48) produces NADH, which is coupled with diaphorase (EC 1.8.1.4) and iodonitrotetrazolium violet (INT). The colourless INT is converted to a formazan of red colour the intensity of which is quantitated either photometrically by a microplate reader or determined visually with sufficient sensitivity for screening purposes. We evaluated the assay on 200,000 blood samples in a newborn screening program, and were able to distinguish between classical and milder forms of galactosemia with ease.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008058 Dihydrolipoamide Dehydrogenase A flavoprotein containing oxidoreductase that catalyzes the reduction of lipoamide by NADH to yield dihydrolipoamide and NAD+. The enzyme is a component of several MULTIENZYME COMPLEXES. Lipoamide Dehydrogenase,NAD Diaphorase,NADH Diaphorase,Diaphorase (Lipoamide Dehydrogenase),Dihydrolipoyl Dehydrogenase,Glycine Decarboxylase Complex L-Protein,L-Protein, Glycine Decarboxylase Complex,Lipoamide Dehydrogenase, Valine,Lipoic Acid Dehydrogenase,Lipoyl Dehydrogenase,Valine Lipoamide Dehydrogenase,Dehydrogenase, Dihydrolipoamide,Dehydrogenase, Dihydrolipoyl,Dehydrogenase, Lipoamide,Dehydrogenase, Lipoic Acid,Dehydrogenase, Lipoyl,Dehydrogenase, Valine Lipoamide,Diaphorase, NAD,Diaphorase, NADH,Glycine Decarboxylase Complex L Protein
D009243 NAD A coenzyme composed of ribosylnicotinamide 5'-diphosphate coupled to adenosine 5'-phosphate by pyrophosphate linkage. It is found widely in nature and is involved in numerous enzymatic reactions in which it serves as an electron carrier by being alternately oxidized (NAD+) and reduced (NADH). (Dorland, 27th ed) Coenzyme I,DPN,Diphosphopyridine Nucleotide,Nadide,Nicotinamide-Adenine Dinucleotide,Dihydronicotinamide Adenine Dinucleotide,NADH,Adenine Dinucleotide, Dihydronicotinamide,Dinucleotide, Dihydronicotinamide Adenine,Dinucleotide, Nicotinamide-Adenine,Nicotinamide Adenine Dinucleotide,Nucleotide, Diphosphopyridine
D003124 Colorimetry Any technique by which an unknown color is evaluated in terms of standard colors. The technique may be visual, photoelectric, or indirect by means of spectrophotometry. It is used in chemistry and physics. (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
D005691 Galactose Dehydrogenases D-Galactose:NAD(P)+ 1-oxidoreductases. Catalyzes the oxidation of D-galactose in the presence of NAD+ or NADP+ to D-galactono-gamma-lactone and NADH or NADPH. Includes EC 1.1.1.48 and EC 1.1.1.120. Galactose Oxidoreductases,Dehydrogenases, Galactose,Oxidoreductases, Galactose
D005693 Galactosemias A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (PRIMARY OVARIAN INSUFFICIENCY); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3) Galactokinase Deficiency Disease,Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease,UDPglucose 4-Epimerase Deficiency Disease,Classic Galactosemia,Deficiency Disease, Galactokinase,Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase,Deficiency Disease, UDP-Galactose-4-Epimerase,Deficiency Disease, UDPglucose 4-Epimerase,Epimerase Deficiency Galactosemia,GALE Deficiency,GALK Deficiency,GALT Deficiency,Galactokinase Deficiency,Galactose Epimerase Deficiency,Galactose-1-Phosphate Uridyltransferase Deficiency,Galactose-1-Phosphate Uridylyltransferase Deficiency,Galactosemia,Galactosemia 2,Galactosemia 3,Galactosemia III,Galactosemia, Classic,Hereditary Galactokinase Deficiency,UDP-Galactose-4-Epimerase Deficiency,UDP-Galactose-4-Epimerase Deficiency Disease,UDPGlucose Hexose-1-Phosphate Uridylyltransferase Deficiency,UTP Hexose-1-Phosphate Uridylyltransferase Deficiency,UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency Disease,Classic Galactosemias,Deficiencies, GALE,Deficiencies, GALK,Deficiencies, GALT,Deficiencies, Galactokinase,Deficiencies, Galactose Epimerase,Deficiencies, Galactose-1-Phosphate Uridyltransferase,Deficiencies, Galactose-1-Phosphate Uridylyltransferase,Deficiencies, Hereditary Galactokinase,Deficiencies, UDP-Galactose-4-Epimerase,Deficiency Disease, Galactose 1 Phosphate Uridyl Transferase,Deficiency Disease, UDP Galactose 4 Epimerase,Deficiency Disease, UDPglucose 4 Epimerase,Deficiency Diseases, UDP-Galactose-4-Epimerase,Deficiency Galactosemia, Epimerase,Deficiency Galactosemias, Epimerase,Deficiency, GALE,Deficiency, GALK,Deficiency, GALT,Deficiency, Galactokinase,Deficiency, Galactose Epimerase,Deficiency, Galactose-1-Phosphate Uridyltransferase,Deficiency, Galactose-1-Phosphate Uridylyltransferase,Deficiency, Hereditary Galactokinase,Deficiency, UDP-Galactose-4-Epimerase,Epimerase Deficiency Galactosemias,GALE Deficiencies,GALK Deficiencies,GALT Deficiencies,Galactokinase Deficiencies,Galactokinase Deficiencies, Hereditary,Galactokinase Deficiency Diseases,Galactokinase Deficiency, Hereditary,Galactose 1 Phosphate Uridyl Transferase Deficiency Disease,Galactose 1 Phosphate Uridyltransferase Deficiency,Galactose 1 Phosphate Uridylyltransferase Deficiency,Galactose Epimerase Deficiencies,Galactose-1-Phosphate Uridyltransferase Deficiencies,Galactose-1-Phosphate Uridylyltransferase Deficiencies,Galactosemia 2s,Galactosemia 3s,Galactosemia IIIs,Galactosemia, Epimerase Deficiency,Galactosemias, Classic,Galactosemias, Epimerase Deficiency,Hereditary Galactokinase Deficiencies,UDP Galactose 4 Epimerase Deficiency,UDP Galactose 4 Epimerase Deficiency Disease,UDP-Galactose-4-Epimerase Deficiencies,UDP-Galactose-4-Epimerase Deficiency Diseases,UDPGlucose Hexose 1 Phosphate Uridylyltransferase Deficiency,UDPglucose 4 Epimerase Deficiency Disease,UTP Hexose 1 Phosphate Uridylyltransferase Deficiency,UTP Hexose 1 Phosphate Uridylyltransferase Deficiency Disease,Uridyltransferase Deficiencies, Galactose-1-Phosphate,Uridyltransferase Deficiency, Galactose-1-Phosphate,Uridylyltransferase Deficiencies, Galactose-1-Phosphate,Uridylyltransferase Deficiency, Galactose-1-Phosphate
D005695 Galactosephosphates Phosphoric acid esters of galactose.
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000469 Alkaline Phosphatase An enzyme that catalyzes the conversion of an orthophosphoric monoester and water to an alcohol and orthophosphate. EC 3.1.3.1.
D013778 Tetrazolium Salts Quaternary salts derived from tetrazoles. They are used in tests to distinguish between reducing sugars and simple aldehydes, for detection of dehydrogenase in tissues, cells, and bacteria, for determination of corticosteroids, and in color photography. (From Mall's Dictionary of Chemistry, 5th ed, p455) Tetrazolium Salt,Salt, Tetrazolium,Salts, Tetrazolium

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