Acute renal failure in a patient with phosphofructokinase deficiency.
A 16-year-old Caucasian girl was admitted to hospital with acute renal failure and hemolytic anemia due to rhabdomyolysis following a 3-km walk. (31)P-magnetic resonance spectroscopy provided characteristic spectra of type VII glycogen storage disease (phosphofructokinase deficiency).
Exantus
J
J
Département de Pédiatrie, Hôpital Edouard-Herriot, Université Claude-Bernard, Lyon, France.
Ranchin
B
B
Dubourg
L
L
Touraine
R
R
Baverel
G
G
Cochat
P
P
D058186:Acute Kidney Injury / Q000201:enzymology / Q000209:etiology*; D000293:Adolescent; D000743:Anemia, Hemolytic / Q000209:etiology; D003937:Diagnosis, Differential; D005260:Female; D006014:Glycogen Storage Disease Type VII / Q000175:diagnosis* / Q000201:enzymology; D006801:Humans; D009682:Magnetic Resonance Spectroscopy / Q000379:methods; D010732:Phosphofructokinase-1 / Q000172:deficiency*; D010759:Phosphorus Isotopes; D012206:Rhabdomyolysis / Q000209:etiology
D010759:Phosphorus Isotopes; D010732:Phosphofructokinase-1