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 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

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

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

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

Growth Trends 4y1m 4y5m 4y8m

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

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

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

Present Intake

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

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.

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

References U.S. National Library of Medicine and the National Institutes of Health. Hereditary urea cycle abnormality. MedlinePlus webpage. Available at Accessed March 8, Accessed March 8 U. S. National Library of Medicine. Citrullinemia. Genetics Home Reference webpage. Available at Accessed March 8, Accessed March 8 Newborn Screening Clearinghouse. Citrullinemia, type 1. Baby’s First test webpage. Available at Accessed March 8, Accessed March 8 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 Accessed March 8, Crisan E. Hyperammonemia treatment and management. Medscape webpage. Available at Accessed March 8, Accessed March 8