title: Nicotinic acid phosphoribosyltransferase activity in human erythrocytes: studies using a new HPLC method.
abstract: A non-radiochemical method linked to reverse-phase high-performance liquid chromatography was developed to determine the activity of nicotinic acid phosphoribosyltransferase (EC 2.4.2.11) in crude lysates of human red blood cells. The method is accurate and easily reproducible in different chromatographic systems. The enzyme activity was determined in erythrocytes of healthy subjects and in patients with different purine disorders showing altered NAD levels. Very low enzyme activity was found in a boy hemizygous for phosphoribosylpyrophosphate synthetase superactivity, consistent with the low erythrocyte NAD concentration.
authors.affiliation: Dipartimento di Biologia Molecolare, Università di Siena, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Pescaglini
authors.forename: V
authors.initials: V
authors.lastname: Micheli
authors.forename: H A
authors.initials: HA
authors.lastname: Simmonds
authors.forename: M
authors.initials: M
authors.lastname: Rocchigiani
authors.forename: G
authors.initials: G
authors.lastname: Pompucci
mesh_terms: D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency; D007223:Infant; D008297:Male; D008875:Middle Aged; D009243:NAD / Q000097:blood; D010430:Pentosyltransferases / Q000097:blood*
chemical_list: D009243:NAD; D010430:Pentosyltransferases; D000228:Adenine Phosphoribosyltransferase; D007041:Hypoxanthine Phosphoribosyltransferase; C021864:nicotinate phosphoribosyltransferase