Combined nutritional support and continuous extracorporeal removal therapy in the severe acute phase of maple syrup urine disease.
OBJECTIVE
The authors assessed the efficiency, tolerance and outcome of neonates and children with maple syrup urine disease (MSUD) in acute decompensation managed by endogenous and extracorporeal removal of accumulated MSUD metabolites.


METHODS
Single center cohort study.


METHODS
Pediatric and neonatal intensive care unit in a tertiary care hospital.


METHODS
Between January, 1991, and June, 1999, six neonates and six children in acute decompensation of MSUD were included in the study. Each of them had two of the three following criteria: comatose state, gastrointestinal intolerance, leucine plasma levels over 1700 micromol/l.


METHODS
Patients were treated by combined nutrition manipulation and continuous venovenous extracorporeal removal therapies (CECRT) including hemofiltration, hemodialysis or hemodiafiltration. A clinical and biological evaluation was performed before, during and following the treatment.


RESULTS
Eleven out of the 12 patients survived. One child had two acute episodes at 6.5 and 9 years old. Eight patients recovered a normal cerebral performance category score. In all cases, plasma leucine level decreased according to a logarithmic mode within 11-24 h hemodiafiltration combined with nutritional support whereas, with nutrition alone after stopping CECRT, the decrease in leucine plasma levels was slower, following a linear mode. Eight patients were supplemented with valine and isoleucine for mean plasma values of 177+/-92 and 68+/-66, respectively.


CONCLUSIONS
In severe acute decompensation of MSUD, CECRT combined with nutritional support limit central nervous system damage, by dramatically decreasing branched chain amino and keto acid levels.
Jouvet
P
P
Fédération de Pédiatrie Médicale, Service de Réanimation Pédiatrique, Hôpital Necker Enfants Malades, 149 rue de Sèvres, 75743 Paris cedex 15, France. philippe.jouvet@nck.ap-hop-paris.fr
Jugie
M
M
Rabier
D
D
Desgrès
J
J
Hubert
P
P
Saudubray
J M
JM
Man
N K
NK
D000208:Acute Disease; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004750:Enteral Nutrition; D005260:Female; D006440:Hemofiltration; D006801:Humans; D007231:Infant, Newborn; D007362:Intensive Care Units; D007930:Leucine / Q000378:metabolism; D008297:Male; D008375:Maple Syrup Urine Disease / Q000150:complications / Q000178:diet therapy / Q000628:therapy*; D009422:Nervous System Diseases / Q000209:etiology; D011506:Proteins / Q000378:metabolism; D015996:Survival Rate; D016896:Treatment Outcome
D011506:Proteins; D007930:Leucine