Red blood cell adenine nucleotides abnormalities in Down syndrome

V. Stocchi, M. Magnani, L. Cucchiarini, G. Novelli, B. Dallapiccola

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)131-135
Number of pages5
JournalAmerican Journal of Medical Genetics
Issue number1
Publication statusPublished - 1985

ASJC Scopus subject areas

  • Genetics(clinical)

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