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Outpatient treatment of propionic acidemia-associated hyperammonemia with N-carbamoyl-L-glutamate in an infant.

Abstract：

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. CONCLUSION: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.

journal_name

Clin Ther

journal_title

Clinical therapeutics

authors

Soyucen E,Demirci E,Aydin A

doi

10.1016/j.clinthera.2010.04.004

subject

Has Abstract

pub_date

2010-04-01 00:00:00

pages

710-3

issue

4

eissn

0149-2918

issn

1879-114X

pii

S0149-2918(10)00128-1

journal_volume

32

pub_type

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