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.
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.
Authors: Marshall L Summar; Frederick Barr; Sheila Dawling; Wendy Smith; Brendan Lee; Rani H Singh; William J Rhead; Lisa Sniderman King; Brian W Christman Journal: Crit Care Clin Date: 2005-10 Impact factor: 3.598
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