Red blood cell adenine nucleotides abnormalities in Down syndrome

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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)131-135
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume20
Issue number1
DOIs
Publication statusPublished - 1985

Fingerprint

Adenine Nucleotides
Down Syndrome
Erythrocytes
NADP
NAD
Adenosine Monophosphate
Adenosine Diphosphate
Reference Values
Adenosine Triphosphate
High Pressure Liquid Chromatography
Glucose

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Red blood cell adenine nucleotides abnormalities in Down syndrome. / Stocchi, V.; Magnani, M.; Cucchiarini, L.; Novelli, G.; Dallapiccola, B.

In: American Journal of Medical Genetics, Vol. 20, No. 1, 1985, p. 131-135.

Research output: Contribution to journalArticle

Stocchi, V. ; Magnani, M. ; Cucchiarini, L. ; Novelli, G. ; Dallapiccola, B. / Red blood cell adenine nucleotides abnormalities in Down syndrome. In: American Journal of Medical Genetics. 1985 ; Vol. 20, No. 1. pp. 131-135.
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