Title: Human Milk Feeding in Inherited Metabolic Disorders: A systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes.
| Published: | March 20, 2025 |
Breast milk is the gold standard for infant nutrition. It contains an abundance of essential nutritional and functional components that support growth and development, and contribute to a wide range of long-term benefits, such as reduced risk of infections, allergies and chronic diseases later in life. However, for infants born with inherited metabolic disorders (IMDs) – a group of rare genetic conditions in which a faulty enzyme hinders the body’s ability to metabolize certain nutrients – breastfeeding can be particularly challenging.
These metabolic disruptions can lead to the accumulation of harmful substances, imbalances in energy production, and/or complications breaking down complex molecules. If not properly treated, IMDs can affect multiple organs, potentially leading to impaired growth, neurological complications, organ dysfunction, and even life-threatening events.
Fortunately, for certain IMDs, early diagnosis combined with a carefully controlled lifelong diet can help effectively manage the condition and support healthy development. To further investigate the role of human milk feeding in IMDs, experts from Danone Research & Innovation, alongside clinicians from Austria, the UK, the US, Turkey and The Netherlands, conducted a comprehensive review of over 50 studies. Their analysis included data from 861 infants – 86% of whom were diagnosed with phenylketonuria (PKU).
The findings highlight that in PKU, a combination of breast milk and phenylalanine-free infant formula promotes adequate metabolic control, growth, and neurodevelopment. For other IMDs, research is limited, but the data suggest that human milk feeding is possible with careful supervision and, where necessary, supplementation with special medical formulas*.
According to Cyril Marsaux, Senior Scientist in Metabolics, “Careful and continuous monitoring is always essential. That’s why we encourage clinicians worldwide to share their experience with breastfeeding for infants with IMD, especially for IMDs beyond PKU – so that together we can continue improving care for all infants”.
Read the full review >> Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes
*[DISCLAIMER] Special medical formulas are foods for special medical purposes and are intended for patients who are medically diagnosed with an inherited metabolic disorder. They must be used under medical supervision after full consideration of all feeding options by a healthcare professional, including breastfeeding.