Red blood cell adenine nucleotides abnormalities in down syndrome

✍ Scribed by Stocchi, Vilberto ;Magnani, Mauro ;Cucchiarini, Luigi ;Novelli, Giuseppe ;Dallapiccola, Bruno ;Opitz, John M. ;Reynolds, James F.

• Publisher: John Wiley and Sons
• Year: 1985
• Tongue: English
• Weight: 294 KB
• Volume: 20
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320200116

✦ Synopsis

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 alternation of the energetic charge could be partly responsible for the impairment of glucose metabolism in these patients.