Abstract Format Example
RESEARCH STUDY
Eating disorders in adults with phenylketonuria: preliminary evidence and a call for clinical screening
Coakley, KE1
1Department of Individual, Family, and Community Education, University of New Mexico, Albuquerque, NM, USA
Background: Despite advances in treatment options, management of phenylketonuria (PKU) generally requires dietary restriction and modifications. A lifelong emphasis on dietary restriction could result in unhealthy relationships with food and disordered eating behaviors. There is little evidence examining disordered eating behaviors and eating disorders (ED) in adults with PKU.
Methods: Adults 18 years and older with PKU were recruited through social media, support groups, and by reaching out to metabolic dietitians across the U.S. Participants completed a demographic survey, the SCOFF questionnaire screener, the Binge Eating Disorder Screener-7 (BEDS-7), and the Eating Disorders Inventory-3 (EDI-3) with a researcher via Zoom. Participants also completed a 24-hour recall and filter paper to measure phenylalanine and tyrosine. A control group of adults without PKU was recruited from students and staff at the University of New Mexico (UNM).
Results: Forty-one adults with PKU (80% female, mean age=31.2 years) and 41 age and sex-matched controls participated (80% female, mean age=30.4 years). Mean BMI was significantly higher in PKU adults compared to controls (30.1 vs 25.9; p=0.03). EDI-3 composite scores for drive for thinness, bulimia, body dissatisfaction and eating disorder risk were not significantly different between groups; however, PKU adults had significantly lower ineffectiveness, interpersonal problems, overcontrol, and general psychological maladjustment composite scores than controls (p<0.05). More PKU adults screened positive for an eating disorder on the SCOFF (46% vs 34%) and BEDS-7 (38% vs 34%) compared to controls, but differences were not significant. In PKU adults, blood phenylalanine (mean=381μmol/L) was significantly positively correlated with BMI and body dissatisfaction, ineffectiveness, affective problems, and general psychological maladjustment composite scores (p<0.05).
Conclusions: Adults with PKU had similar eating disorder and lower psychological EDI-3 scores compared to age and sex-matched controls. Importantly, almost half of PKU adults screened positive for an ED per the SCOFF, and nearly 40% reported binge eating episodes in the past three months. Lack of metabolic control in PKU adults was correlated with higher BMI and body dissatisfaction, and psychological problems. An eating disorder screener specific to PKU is needed to fully evaluate the scope of eating disorders and associations with metabolic control.
Funding Disclosure: Supported by a University of New Mexico (UNM) Research Allocations Committee (RAC) Grant
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Abstract Format Example
CASE REPORT
Lessons learned from the nutritional management of a patient with complex CblB MMA: a case study
Draper KA1, Williamson JL1, Singh RH1
1Department of Human Genetics, Emory University, Atlanta, GA, USA
Background: Isolated methylmalonic acidemia (MMA) caused by pathogenic variants in the MMAB gene lead to diminished synthesis of adenosylcobalamin, the cofactor for the enzyme methylmalonyl-CoA mutase. This subtype of MMA is characterized as cblB and presentation varies depending on the driver mutation affecting enzyme production. Since dietary management is the only treatment for non-B12 responsive patients, metabolic dietitians play a crucial role in the clinical care for MMA patients.
Case Description: A patient was identified through newborn screening and was treated at 8 days of life with a low-protein diet supplemented with medical food and carnitine. Serum MMA ranged from 101-762 umol/L on diet, and the source of MMA fluctuations were identified through close communication with patient’s family. Hydroxocobalamin injections were trialed twice during infancy. Nutrition monitoring included weekly weight checks, monthly labs, and close dietary management during illness. The family received multiple nutrition education sessions and sick-day diet regimens from metabolic dietitians. Challenges included balancing intact/medical food protein ratios to normalize branched-chain amino acids (BCAAs), while minimizing MMA serum levels and ensuring adequate caloric intake with patient’s food aversions. The patient was classified as non-responsive to hydroxocobalamin when trialed on a dose of 1 mg/mL daily (0.2 mg/kg). The fluctuations in MMA levels were associated with total protein and energy intake, illness, feeding schedule, and fasting duration. The total protein ratio of 65% intact protein and 35% medical food protein was associated with lower MMA levels and normal BCAAs.
Conclusions: The nutrition management for patients with a cblB MMA involves maximizing intact protein and minimizing medical food to provide adequate total protein for optimal metabolic control. Even small changes in a patient’s feeding schedule, health status, and appetite can have a lasting effect on their clinical status. Frequent patient contact by a trained metabolic dietitian, coupled with continual nutrition assessment and targeted education, is imperative for improved outcomes in MMA.
Funding Disclosure: Medical Nutrition Therapy for Prevention (MNT4P) is primarily sponsored by the Georgia Department of Public Health, Award #38206