Risk of worsened encephalopathy after intravenous glycerol therapy in patients with adult-onset type II citrullinemia (CTLN2).
OBJECTIVE
We report a risk of worsening of encephalopathy by glycerol infusion when this osmotic agent is used for the treatment of brain edema in patients with adult-onset type II citrullinemia (CTLN2) caused by citrin deficiency.


METHODS
We performed a retrospective investigation of 3 patients with CTLN2 treated for brain edema at our institute: a 31-year-old male patient and a 40-year-old female patient received treatment for encephalopathy-related brain edema with 10% glycerol infusion and 20% D-mannitol, and a 40-year-old male patient received only 20% D-mannitol infusion. In addition, we also performed a retrospective study in 11 CTLN2 patients reported previously (8 patients treated with 10% glycerol, 2 treated with 10% glycerol and 20% mannitol, and 1 treated with 20% mannitol).


RESULTS
The 12 patients treated with 10% glycerol, including 2 of our patients, died due to rapidly deteriorating encephalopathy and brain edema. On the other hand, the 2 patients who received only 20% D-mannitol, including one of our patients, recovered with the disappearance of brain edema.


CONCLUSIONS
In CTLN2 patients, glycerol infusion seems to be associated with exacerbation of encephalopathy itself and only mannitol should be used for the treatment of brain edema in patients with this disorder.
Yazaki
Masahide
M
Third Department of Medicine, Shinshu University School of Medicine, Matsumoto 390-8621.
Takei
Yo-ichi
Y
Kobayashi
Keiko
K
Saheki
Takeyori
T
Ikeda
Shu-ichi
S
D000328:Adult; D017668:Age of Onset; D001929:Brain Edema / Q000139:chemically induced* / Q000000981:diagnostic imaging / Q000188:drug therapy; D002135:Calcium-Binding Proteins / Q000172:deficiency* / Q000235:genetics; D020159:Citrullinemia / Q000188:drug therapy* / Q000235:genetics / Q000378:metabolism; D004247:DNA / Q000032:analysis; D018450:Disease Progression; D004234:Diuretics, Osmotic / Q000008:administration & dosage / Q000627:therapeutic use; D017809:Fatal Outcome; D005260:Female; D005500:Follow-Up Studies; D005990:Glycerol / Q000008:administration & dosage / Q000009:adverse effects*; D006801:Humans; D007262:Infusions, Intravenous; D008297:Male; D008353:Mannitol / Q000008:administration & dosage / Q000627:therapeutic use; D026901:Membrane Transport Proteins / Q000235:genetics; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins / Q000235:genetics; D027361:Organic Anion Transporters / Q000172:deficiency* / Q000235:genetics; D012189:Retrospective Studies; D014057:Tomography, X-Ray Computed
D002135:Calcium-Binding Proteins; D004234:Diuretics, Osmotic; D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins; D027361:Organic Anion Transporters; C119629:SLC25A13 protein, human; C008822:citrin; D008353:Mannitol; D004247:DNA; D005990:Glycerol