Outpatient treatment of propionic acidemia-associated hyperammonemia with N-carbamoyl-L-glutamate in an infant.
OBJECTIVE
The aim of this research letter was to describe the use of N-carbamoyl-L-glutamate as first-line treatment of hyperammonemia in a 4-month-old female patient with propionic acidemia (PA).


METHODS
A 4-month-old female patient weighing 3.9 kg presented with decompensation with PA and initial hyperammonemia of 451 microg/dL. The patient was receiving a protein-restricted diet supplemented with L-carnitine at a dosage of 100 mg/kg/d during 2 consecutive months. Treatment with N-carbamoyl-L-glutamate was administered during 4 days on an outpatient basis at a dosage of 100 mg/kg/d, representing a dosage of 200 mg BID. The patient's hyperammonemia was monitored for 1 week.


RESULTS
The patient's ammonia concentration started to decrease on the first day of the initiation of the treatment with N-carbamoyl-L-glutamate, from 451 to 68 microg/dL (normal range, 10-80 microg/dL) at day 6 of follow-up. The patient did not require intravenous fluids, invasive procedures, or hospitalization.


CONCLUSIONS
N-carbamoyl-L-glutamate, combined with a protein-restricted diet and L-carnitine supplementation, was apparently effective as first-line treatment of hyperammonemia in this infant with PA.
Soyucen
Erdogan
E
Cerrahpasa Medical Faculty, Department of Pediatrics, Istanbul University, Istanbul, Turkey. soyucen2007@hotmail.com
Demirci
Esra
E
Aydin
Ahmet
A
D002331:Carnitine / Q000627:therapeutic use; D004032:Diet; D005260:Female; D005971:Glutamates / Q000627:therapeutic use*; D006801:Humans; D022124:Hyperammonemia / Q000188:drug therapy* / Q000209:etiology; D007223:Infant; D056693:Propionic Acidemia / Q000150:complications / Q000188:drug therapy*
D005971:Glutamates; C006895:N-carbamylglutamate; D002331:Carnitine