ABSTRACT
We report the outcomes of an adult and pediatric split liver transplant from an adult male donor who died due to an unrecognized UCD, OTC deficiency. Recognizing inborn errors of metabolism can be challenging, especially in adult centers where such disorders are rarely encountered. Shortage of donors for liver transplantation has led to procedures to maximize donor utilization, such as split and live donor grafts. The cause of death should be ascertained before accepting a cadaveric donor organ.
Subject(s)
Liver Transplantation , Ornithine Carbamoyltransferase Deficiency Disease/diagnosis , Postoperative Complications/diagnosis , Adult , Child , Fatal Outcome , Female , Humans , Liver Transplantation/methods , Male , Ornithine Carbamoyltransferase Deficiency Disease/etiologySubject(s)
Hyperammonemia/etiology , Liver/diagnostic imaging , Ornithine Carbamoyltransferase Deficiency Disease/etiology , Portal Vein/abnormalities , Vascular Malformations/diagnostic imaging , Acidosis, Lactic/etiology , Autopsy , Fatal Outcome , Humans , Infant, Newborn , Liver/pathology , Male , Ornithine Carbamoyltransferase Deficiency Disease/genetics , Portal Vein/diagnostic imaging , Portal Vein/pathology , Ultrasonography, Doppler, Color , Vascular Malformations/pathologyABSTRACT
The liver's role as the largest organ of metabolism and the unique and often critical function of liver-specific enzyme pathways imply a greater risk to the recipient of acquiring a donor metabolic disease with liver transplants versus other solid organ transplants. With clinical consequences rarely reported, the frequency of solid organ transplant transfer of metabolic disease is not known. Ornithine transcarbamylase deficiency (OTCD), although rare, is the most common of the urea cycle disorders (UCDs). Because of phenotypic heterogeneity, OTCD may go undiagnosed into adulthood. With over 5000 liver transplant procedures annually in the United States, the likelihood of unknowingly transmitting OTCD through liver transplantation is very low. We describe the clinical course of a liver transplant recipient presenting with acute hyperammonemia and encephalopathy after receiving a liver graft form a donor with unrecognized OTCD.
Subject(s)
Liver Cirrhosis/surgery , Liver Transplantation/adverse effects , Liver/enzymology , Ornithine Carbamoyltransferase Deficiency Disease/diagnosis , Tissue Donors , Urea/metabolism , Fatal Outcome , Female , Hepatic Encephalopathy/enzymology , Hepatic Encephalopathy/etiology , Humans , Hyperammonemia/enzymology , Hyperammonemia/etiology , Liver/surgery , Middle Aged , Ornithine Carbamoyltransferase Deficiency Disease/complications , Ornithine Carbamoyltransferase Deficiency Disease/enzymology , Ornithine Carbamoyltransferase Deficiency Disease/etiology , Ornithine Carbamoyltransferase Deficiency Disease/therapy , Treatment OutcomeABSTRACT
BACKGROUND: Neurological complications following bariatric surgery are rare. Whereas nutritional deficiencies are the most common cause of neurological symptoms, the unmasking of previously subclinical metabolic disorders can also lead to significant morbidity. OBJECTIVE: To characterize the clinical presentation, serum biochemical fluctuations, and functional enzymatic analysis of a case of functional ornithine transcarbamylase deficiency unmasked by a dietary change following bariatric surgery. DESIGN: Case report. SETTING: Tertiary referral center, hospital (inpatient) setting. PATIENT: A 29-year-old woman who presented with intermittent encephalopathy associated with recurrent hyperammonemia. INTERVENTIONS: Clinical, biochemical, and mutational studies. RESULTS: The pattern of intermittent hyperammonemia and encephalopathy following oral and parenteral nutrition suggested a urea cycle abnormality. Functional enzymatic assay results showed markedly reduced ornithine transcarbamylase activity in the absence of known coding mutations. CONCLUSION: Previously asymptomatic ornithine transcarbamylase deficiency should be suspected in adult patients who develop recurrent hyperammonemia and encephalopathy following bariatric surgery.
Subject(s)
Bariatric Surgery/adverse effects , Brain Diseases/etiology , Ornithine Carbamoyltransferase Deficiency Disease/etiology , Postoperative Complications , Adult , Female , Humans , Obesity, Morbid/surgery , Time FactorsABSTRACT
Most often, urea cycle disorders have been described as acute onset hyperammonemia in the newborn period; however, there is a growing awareness that urea cycle disorders can present at almost any age, frequently in the critical care setting. This article presents three cases of adult-onset hyperammonemia caused by inherited defects in nitrogen processing in the urea cycle, and reviews the diagnosis, management, and pathophysiology of adult-onset urea cycle disorders. Individuals who have milder molecular urea cycle defects can lead a relatively normal life until a severe environmental stress triggers a hyperammonemic crisis. Comorbid conditions such as physical trauma often delay the diagnosis of the urea cycle defect. Prompt recognition and treatment are essential in determining the outcome of these patients.
Subject(s)
Brain Diseases, Metabolic, Inborn , Critical Illness , Hyperammonemia , Urea/metabolism , Adult , Age of Onset , Brain Diseases, Metabolic, Inborn/diagnosis , Brain Diseases, Metabolic, Inborn/etiology , Brain Diseases, Metabolic, Inborn/therapy , Carbamoyl-Phosphate Synthase I Deficiency Disease/diagnosis , Carbamoyl-Phosphate Synthase I Deficiency Disease/etiology , Carbamoyl-Phosphate Synthase I Deficiency Disease/therapy , Emergencies , Female , Humans , Hyperammonemia/diagnosis , Hyperammonemia/etiology , Hyperammonemia/therapy , Male , Middle Aged , Ornithine Carbamoyltransferase Deficiency Disease/diagnosis , Ornithine Carbamoyltransferase Deficiency Disease/etiology , Ornithine Carbamoyltransferase Deficiency Disease/therapy , Precipitating FactorsABSTRACT
Neonatal hyperammonemia secondary to X-linked ornithine transcarbamylase (OTC) deficiency carries a high risk of morbidity and mortality. Results of medical therapy are less than satisfactory. Experience with liver transplantation in very young affected infants is limited. We report a male newborn with severe OTC deficiency who underwent successful orthotopic, cadaveric liver transplantation at the age of 60 days. Although technically challenging in the neonatal period, liver transplantation should be considered early as the most promising treatment approach currently available.
