Hemoglobin-oxygen affinity in hypophosphatemic rickets.
In 14 patients with simple X-linked hypophosphatemic rickets, 5 were below the third percentile in height and 9 were between the third and twenty-fifth percentile. Although the mean serum inorganic phosphorus level was only 2.01 +/- 0.65 (normal range for all age groups is 3.8 to 6.0 mg/100 ml), both the mean values for red cell 2,3-diphosphoglycerate (2,3-DPG) and adenosine triphosphate (ATP) were normal at 4.78 +/- 1.23 and 1.02 +/- 0.17 mumol/ml of red blood cells respectively. Moreover, the mean P50 value was normal at 26.4 +/- 0.9 mmHg. These normal oxygen transport data make unlikely any proposal that short stature seen in these patients is secondary to chronic tissue hypoxia. They also indicate that the intra-erythrocytic organic phosphate levels are maintained at normal levels despite profound chronic hypophosphatemia.
D000255:Adenosine Triphosphate / Q000097:blood; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004163:Diphosphoglyceric Acids / Q000097:blood; D004912:Erythrocytes / Q000378:metabolism; D005260:Female; D006454:Hemoglobins; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000097:blood*; D008297:Male; D010100:Oxygen / Q000097:blood*; D010108:Oxyhemoglobins / Q000032:analysis; D012279:Rickets / Q000097:blood*
D004163:Diphosphoglyceric Acids; D006454:Hemoglobins; D010108:Oxyhemoglobins; D000255:Adenosine Triphosphate; D010100:Oxygen