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.

• Authors: Erdogan Soyucen, Esra Demirci, Ahmet Aydin
• Journal: Clinical therapeutics (Clin Ther) Vol. 32 Issue 4 Pg. 710-3 (Apr 2010) ISSN: 1879-114X [Electronic] United States
• PMID: 20435240 (Publication Type: Case Reports, Journal Article)

Chemical References

• Glutamates
• N-carbamylglutamate
• Carnitine

Topics

• Carnitine (therapeutic use)
• Diet
• Female
• Glutamates (therapeutic use)
• Humans
• Hyperammonemia (drug therapy, etiology)
• Infant
• Propionic Acidemia (complications, drug therapy)