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Citrullinemia

Citrullinemia is a rare inherited urea cycle disorder caused by deficiencies in the ASS1 enzyme, leading to dangerous ammonia accumulation, primarily affecting infants. There are two forms: Type I (classic) and Type II (adult onset), with Type I prevalent in 1 in 57,000 people globally. Symptoms can include poor appetite, lethargy, and seizures, often leading to severe complications without timely treatment. Management involves regular blood tests, dietary restrictions, and potential liver transplant. Education on nutritional intake and treatments like G-Tube may be vital for affected families.

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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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