Red blood cell adenine nucleotides abnormalities in down syndrome
Authors:
- Mauro MagnaniMauro Magnani
- Giuseppe NovelliGiuseppe Novelli
- Bruno DallapiccolaBDBruno Dallapiccola
- John M. OpitzJOJohn M. Opitz
- James F. ReynoldsJRJames F. Reynolds
- 1 January 1985
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 20 (1) , 131-135
Abstract
The red blood cell adenine nucleotides of 20 Down Syndrome patients and 20 healthy controls were determined by a new high‐performance liquid chromatography method. All patients showed increased concentrations of adenosine 5′‐diphosphate (ADP) and adenosine 5′‐monophosphate (AMP), while adenosine 5′‐triphosphate (ATP), nicotinamide adenine dinucleotide (NAD+) and nicotinamide adenine dinucleotide phosphate (NADP+) were within normal ranges. This alteration of the energetic charge could be partly responsible for the impairment of glucose metabolism in these patients.Keywords
This publication has 13 references indexed in Scilit:
- Fast reversed-phase high-performance liquid chromatographic determination of nucleotides in red blood cellsJournal of Chromatography A, 1984
- Erythrocyte adenosine deaminase, purine nucleoside phosphorylase and phosphoribosyltransferase activity in patients with Down's syndromeClinica Chimica Acta, 1982
- Assignment of the human gene for liver-type 6-phosphofructokinase isozyme (PFKL) to chromosome 21 by using somatic cell hybrids and monoclonal anti-L antibody.Proceedings of the National Academy of Sciences, 1981
- Carbohydrate Metabolism in Down's SyndromeThe Tohoku Journal of Experimental Medicine, 1979
- Efficiency of the Glycolytic Pathway in Erythrocytes of Children with Down's SyndromePediatric Research, 1972
- EARLY-ONSET DIABETES MELLITUS IN THE GENERAL AND DOWN'S SYNDROME POPULATIONSThe Lancet, 1969
- Biochemical Differentiation of Trisomic Down's Syndrome (Mongolism) from That Due to TranslocationNew England Journal of Medicine, 1965
- PHOSPHOHEXOKINASE ACTIVITY OF ERYTHROCYTES IN MONGOLISM ANOTHER POSSIBLE MARKER FOR CHROMOSOME 21The Lancet, 1965
- Über den papierchromatographisch ermittelten Gehalt von Phosphor-Verbindungen in der säurelöslichen Fraktion des menschlichen Blutes, IIHoppe-Seyler´s Zeitschrift Für Physiologische Chemie, 1958
- Über den papierchromatographisch ermittelten Gehalt von Phosphor-Verbindungen in der säurelöslichen Fraktion des menschlichen BlutesHoppe-Seyler´s Zeitschrift Für Physiologische Chemie, 1957