Related Experiment Video

Updated: Jan 18, 2026

Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes
03:19

Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes

Published on: June 28, 2024

724

Positive Impact of Breastfeeding on Nutritional Status and Metabolic Control in Infants with PKU: A Retrospective

Lizbeth López-Mejía1, Sara Guillén-López1, Marcela Vela-Amieva1

  • 1Laboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City 04530, Mexico.

Nutrients
|September 13, 2025
PubMed

Insights

Breast milk (BM) is the optimal protein source for infants with phenylketonuria (PKU) and hyperphenylalaninemia. Compared to infant formula (IF), BM supports better nutritional status and metabolic control when supplemented with phenylalanine-free formula (Phe-FF).

Area of Science:

  • Metabolic disorders
  • Pediatric nutrition
  • Genetics

Background:

  • Phenylketonuria (PKU) management requires a phenylalanine-restricted diet supplemented with phenylalanine-free medical formula (Phe-FF).
  • Breast milk (BM) and infant formula (IF) are protein sources for infants aged 0-6 months.
  • Evidence supporting breastfeeding in PKU infants is limited, leading to its frequent discontinuation.

Purpose of the Study:

  • To compare nutritional status and metabolic control in infants with hyperphenylalaninemia/PKU.
  • To evaluate outcomes based on intact protein source: BM, IF, or a combination.
  • To assess the role of BM as a primary protein source in PKU management.

Main Methods:

  • Retrospective observational study of infants (0-6 months) with hyperphenylalaninemia/PKU.
  • Comparison of three groups: BM + Phe-FF, IF + Phe-FF, and BM + IF + Phe-FF.
  • Regular assessment of anthropometrics and blood phenylalanine levels.

Main Results:

  • The BM + Phe-FF group showed the lowest median phenylalanine levels (129 µmol/L).
  • All assessments in the BM + Phe-FF group were classified as eutrophic.
  • A statistically significant difference in BMI Z-Score was observed between BM + Phe-FF and BM + IF-Phe-FF groups (p=0.036).

Conclusions:

  • Breast milk (BM) is the preferred intact protein source for infants with hyperphenylalaninemia/PKU under six months.
  • BM supports superior nutritional status and metabolic control compared to IF.
  • Findings support continued breastfeeding for infants diagnosed with PKU.
Abstract

Keywords:
amino acid metabolism disordersbreast milkhyperphenylalaninemiainborn errors of metabolisminfant formulanutritionrare diseases

More Related Videos

Assessment of the Efficacy of An Osteopathic Treatment in Infants with Biomechanical Impairments to Suckling07:11

Assessment of the Efficacy of An Osteopathic Treatment in Infants with Biomechanical Impairments to Suckling

Published on: February 5, 2019

9.6K
Breast Milk Enhances Growth of Enteroids: An Ex Vivo Model of Cell Proliferation09:02

Breast Milk Enhances Growth of Enteroids: An Ex Vivo Model of Cell Proliferation

Published on: February 15, 2018

19.9K

Related Concept Videos

Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

Pharmacokinetics in Pediatric Patients: Drug Metabolism

In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses...
195
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
697
Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption01:23

Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption

Understanding the physiological differences in the pediatric population is crucial for effective pharmacotherapy. Neonates, infants, and children exhibit significant variations in gastric pH, gastric emptying time, intestinal transit time, and biliary function. These variations profoundly affect oral drug absorption, necessitating a nuanced approach to pediatric dosing.Neonates present with a unique physiological profile, having a gastric pH greater than 4 and faster and more irregular gastric...
246
Overview of Protein Metabolism01:21

Overview of Protein Metabolism

Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
3.6K
Pharmacokinetics in Pediatric Patients: Drug Distribution01:17

Pharmacokinetics in Pediatric Patients: Drug Distribution

Drug distribution in the pediatric population exhibits unique challenges and considerations due to the physiological differences between children, particularly neonates and infants, and adults. A crucial aspect of pediatric pharmacology is understanding how these differences impact the pharmacokinetics of various drugs, necessitating age-specific dosing strategies to ensure efficacy and safety.Neonates and infants have a higher total body water content, ~75%–90% of their body weight,...
254
Pharmacokinetics in Obese Patients: Drug Metabolism and Excretion01:20

Pharmacokinetics in Obese Patients: Drug Metabolism and Excretion

Drug metabolism, a critical process in the liver, involves two primary phases: Phase I reactions and Phase II conjugation. Obesity introduces significant alterations in this metabolic process, primarily due to fatty infiltration of the liver, leading to conditions such as nonalcoholic fatty liver disease (NAFLD). This condition can modify the activities of both Phase I and II enzymes, impacting how drugs are metabolized in obese patients.Phase I metabolism sees variable effects across...
169