Characterization of Choline Nutriture among Adults and Children with Phenylketonuria

• Authors: Meriah S Schoen, Emory University; Usha Ramakrishnan, Emory University; Jessica Alvarez, Emory University; Thomas Ziegler, Emory University; Xiangqin Cui, Emory University; Rani Singh, Emory University
• Journal Title: NUTRIENTS
• Volume: Volume 14, Number 19
• Publisher: MDPI | 2022-10-01
• Type of Work: Article | Final Publisher PDF
• Publisher DOI: http://doi.org/10.3390/nu14194056
• Subjects: Health Sciences, Medicine and Surgery; Health Sciences, Public Health
• Keywords: Science & Technology; Life Sciences & Biomedicine; Nutrition & Dietetics; rare disease; phenylketonuria; diet; choline; inborn errors of metabolism; DIETARY CHOLINE; DNA METHYLATION; SUPPLEMENTATION; REQUIREMENTS; AVAILABILITY; DEFICIENCY; METHIONINE; MANAGEMENT; CROSSOVER; ESTROGEN

Abstract

Choline is an essential nutrient for brain development and function that is attained through high-protein foods, which are limited in the phenylalanine-restricted diet of people with phenylketonuria (PKU). This study compared choline consumption among individuals with PKU to a reference sample from the National Health and Nutrition Examination Survey (NHANES), and identified treatment and diet-related factors that may modulate choline needs. Participants were individuals with PKU (n = 120, 4–61 years) managed with dietary therapy alone (n = 49), sapropterin dihydrochloride for ≥1 year (n = 38), or pegvaliase for ≥1 year with no medical food (n = 33). NHANES participants were not pregnant or nursing and came from the 2015–2018 cycles (n = 10,681, 4–70 years). Dietary intake data were used to estimate total usual intake distributions for choline, and mean probability of adequacy (MPA) was calculated as a summary index of nutrient adequacy for four methyl-donor/co-factor nutrients that impact choline utilization (folate, vitamin B12, vitamin B6, and methionine). Only 10.8% (SE: 2.98) of the total PKU sample (14.7% [SE: 4.03] of children; 6.8% [SE: 2.89] of adults) achieved the adequate intake (AI) for choline, while 12.2% (SE:0.79) of the NHANES sample met the recommended level. Adults receiving pegvaliase were the most likely to exceed the AI for choline (14.82% [SE: 4.48]), while adults who were on diet therapy alone were the least likely (5.59% [SE: 2.95]). Without fortified medical foods, individuals on diet therapy and sapropterin would not be able to achieve the AI, and MPA for other methyl donor/co-factor nutrients would be reduced. More frequent monitoring of choline intake and increased choline fortification of medical foods could benefit this population.