Intensive care medicine · 2008
Acute hyperammonemic encephalopathy in adult onset ornithine transcarbamylase deficiency.
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Panlaqui Ogee Mer, Tran Khoa, Johns Amanda, McGill Jim, White Hayden
Аннотация
OBJECTIVES: To report the clinical manifestations of acute hyperammonemic encephalopathy in adult onset ornithine transcarbamylase deficiency (OTCD).
DESIGN: Case report.
SETTING: Intensive care unit of a tertiary medical centre.
PATIENT: A 48-year-old Caucasian male body builder who developed acute loss of consciousness after a febrile illness.
INTERVENTIONS: The patient was immediately started on hemodia-filtration, protein elimination and ammonia scavenging medications.
MEASUREMENTS AND RESULTS: Serum ammonium was elevated and plasma and urine amino acids had a pattern indicative of a urea cycle defect. DNA studies revealed a mutation of the urea cycle enzyme, ornithine transcarbamylase. The encephalopathy resolved and the patient slowly recovered though with some cognitive impairment.
CONCLUSIONS: Adult presentation of OTCD is rare and the mortality and morbidity rates are high. However, survival is possible with rapid correction of hyperammonemia. As the clinical manifestations are non-specific, a high index of suspicion is necessary for the correct diagnosis and management.
DESIGN: Case report.
SETTING: Intensive care unit of a tertiary medical centre.
PATIENT: A 48-year-old Caucasian male body builder who developed acute loss of consciousness after a febrile illness.
INTERVENTIONS: The patient was immediately started on hemodia-filtration, protein elimination and ammonia scavenging medications.
MEASUREMENTS AND RESULTS: Serum ammonium was elevated and plasma and urine amino acids had a pattern indicative of a urea cycle defect. DNA studies revealed a mutation of the urea cycle enzyme, ornithine transcarbamylase. The encephalopathy resolved and the patient slowly recovered though with some cognitive impairment.
CONCLUSIONS: Adult presentation of OTCD is rare and the mortality and morbidity rates are high. However, survival is possible with rapid correction of hyperammonemia. As the clinical manifestations are non-specific, a high index of suspicion is necessary for the correct diagnosis and management.