Fructose-1,6-diphosphatase deficiency: a rare cause of prolonged prothrombin time.
A 20-year-old woman presented with severe life-threatening metabolic acidosis and hypoglycemia. In addition, her blood tests revealed elevated hepatic enzymes and a prolonged prothrombin time, with a reduction in factor VII activity. After treatment with a glucose and bicarbonate-containing intravenous infusion, there was a dramatic clinical improvement and normalization of the prothrombin time within 2 days. The patient was found to have fructose-1,6-diphosphatase deficiency, a rare metabolic disorder which has not been described previously as causing coagulation defects.
Nitzan
O
O
Department of Medicine C, Ha-Emeq Medical Center, 18101, Afula, Israel.
Saliba
W R
WR
Goldstein
L H
LH
Elias
M S
MS
D000138:Acidosis / Q000188:drug therapy / Q000209:etiology; D000328:Adult; D001639:Bicarbonates / Q000627:therapeutic use; D001778:Blood Coagulation Disorders / Q000209:etiology*; D004359:Drug Therapy, Combination; D005260:Female; D015319:Fructose-1,6-Diphosphatase Deficiency / Q000097:blood* / Q000150:complications* / Q000188:drug therapy; D005947:Glucose / Q000627:therapeutic use; D006801:Humans; D007003:Hypoglycemia / Q000188:drug therapy / Q000209:etiology; D011517:Prothrombin Time; D016896:Treatment Outcome
D001639:Bicarbonates; D005947:Glucose