UREA CYCLE DISORDER (UCD)

UREA CYCLE DISORDER (UCD)

1. ETIOLOGY

   • Secondary
     • Inborn error in intermediate metabolism
     • Cause by
       • Cirrhosis of liver
       • Liver failure
   • Primary
     • Lead to encepalopathy
     • Accumulation of ammonia due to deficiency of any of these 5 enzymes
       • Carbamyl phosphate synthetase deficiency
         • Carbamyl phosphate synthetase 1
       • Ornithine transcarbamylase deficiency
         • Ornithine transcarbamylase
       • Citrullinemia
         • Argininosuccinate synthetase
       • Argininosuccinic aciduria
         • Argininosuccinic lyase
       • Argininemia
         • Arginase

2. MANAGEMENT

   • Lifestyle
     • Protein-Restriction Diets
     • Design Low Protein Eating Plan
   • Medical
     • Discontinuing protein intake
     • Drug treatments
     • Intravenous fluid and glucose
     • Mix protein-free and standard formula (1-1.5g/kg/day)
     • Peritoneal dialysis, hemodialysis or exchange transfusion.

3. PATHOPHYSIOLOGY

   • Symptoms
     • Some kids do not display symptoms (Before early childhood)
     • Mild to moderate UCD
       • Vomiting, nausea
       • Mental confusion
       • Tired often, difficult to awaken
       • Dislike protein
       • Coma
   • Nutrition Assessments
     • Client history
     • Anthropometric measurement
       • Height
       • Body weight
       • Head circumference
     • Biochemical data
       • Plasma ammonia concentration
       • Urinary analysis
       • Enzymatic analysis
       • Molecular genetic testing
     • Food/Nutrition Related history
   • Diagnosis
     • Initial test
       • Analyze blood
       • Analyze Urine
     • Test to confirm
       • Liver biopsy
       • Genetic test
     • Other tests
       • MRI scan
       • CT scan

4. DIET SUGGESTIONS

   • Low protein, High calorie diet
     • Examples:
       • All fruits, except dried fruits
       • All vegetables, except peas, beans, and corn
       • Healthful fats (olive oil , avocados)
       • Herb and spices
     • Food to avoid
       • Meat, poultry, fish and shellfish
       • Beans, peas and lentils
       • Dairy (milk, cream and cheese)
       • Soy food (tofu and tempeh)
       • Nuts, nut butter and seeds
       • Eggs
       • Gelatin
     • Tips for keeping protein level low
       • Increased the vegetable content, Decreasing the meat content
       • Add small amount of egg to salad
       • Bulk up soups with small amount of rice or pasta
       • Add some healthful fats (avocado or olive oil)
       • Use unsweetened rice milk