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Citrullinemia

Citrullinemia. Sara Harris and Angela Stancil. Introduction. Urea Cycle Disorder Inherited AR Two forms: type I (classic) and type II (adult onset) Prevalence: 1 in 57,000 people worldwide (type I) ASS1 on chromosome 9q34. Diagnosis. Newborn screen

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Citrullinemia

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  1. Citrullinemia Sara Harris and Angela Stancil

  2. Introduction • Urea Cycle Disorder • Inherited AR • Two forms: type I (classic) and type II (adult onset) • Prevalence: 1 in 57,000 people worldwide (type I) • ASS1 on chromosome 9q34

  3. Diagnosis • Newborn screen • Symptoms can be seen in infancy through childhood • Poor appetite, lethargy, irritability, vomiting, muscle weakness, lack of muscle tone, breathing problems, temperature disregulation, seizures, brain swelling, coma, failure to thrive, enlarged liver, and learning delays • Without treatment most babies die within the first weeks of life

  4. Medical Management • Regular blood tests • Medications: sodium phenylbutyrate, sodium phenylacetate, and sodium benzoate • Dialysis • Liver transplant

  5. Nutrition Management • Low protein diet • Medical food and formula • Cyclinex-1 and 2 • Acute: Protein intake should be stopped. Calories should be supplied by giving hypertonic 10% glucose

  6. Anthropometric Data • Full term, male, 4y8m • Trends: height somewhat stable (always small for age) • Trends: weight went from normal to small for age • IBW: 107% of body weight for height age

  7. Growth Trends 4y1m 4y5m 4y8m

  8. Prenatal, Family, and Social History • Mother received prenatal care • C-section, no complications • Lives with mother and 2 siblings • Possible developmental delays

  9. Health History • Admitted to LeBonheur for metabolic crisis • Similac, Cyclinex-1, Pro-phree • Arginine and Buphenyl • Normal childhood illnesses

  10. Feeding Skills, Behavior, and Eating Habits • Eating well at 1 month • Formula and solids progressed normally until transition from bottle to cup • Does not finish formula at school or home • Parenting behaviors

  11. Present Intake

  12. Biochemical Information • Ammonia 40 (normal <30) • Glutamine 780 (WNL), arginine 29 (38-122) • Prealbumin 29 (WNL) • CMP (WNL)

  13. Findings • Inadequate oral intake related to limited food acceptance as evidenced by food recall and anthropometric data. • Altered nutrition-related lab values related to limited adherence to nutrition recommendations as evidenced by low arginine and high ammonia levels.

  14. Recommendations • Encourage PO intake • Educate on low protein foods • Education on ways to make formula more appealing: fun cups, sugar, syrups, flavors, straws • Recommend behavioral therapy class • Educate on G-Tube pros and cons • Possible G-Tube placement after evaluation of caregiver’s ability to properly administer enteral nutrition and care for ostomy site

  15. References • U.S. National Library of Medicine and the National Institutes of Health. Hereditary urea cycle abnormality. MedlinePlus webpage. Available at http://www.nlm.nih.gov/medlineplus/ency/article/000372.htm. Accessed March 8, 2014. • U. S. National Library of Medicine. Citrullinemia. Genetics Home Reference webpage. Available at http://ghr.nlm.nih.gov/condition/citrullinemia. Accessed March 8, 2014. • Newborn Screening Clearinghouse. Citrullinemia, type 1. Baby’s First test webpage. Available at http://www.babysfirsttest.org/newborn-screening/conditions/citrullinemia-type-i. Accessed March 8, 2014. • Hawai‘i Department of Health . Genetic fact sheets for parents: amino acid disorders. The Screening, Technology And Research in Genetics (STAR-G) Project webpage. Available at http://www.newbornscreening.info/Parents/aminoaciddisorders/ASAS.html#12. Accessed March 8, 2014. • Crisan E. Hyperammonemia treatment and management. Medscape webpage. Available at http://emedicine.medscape.com/article/1174503-treatment. Accessed March 8, 2014.

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