From the Research
Infants with Trisomy 21 (Down syndrome) have an increased tendency to accumulate lactate, particularly during illness or stress, due to mitochondrial dysfunction and altered energy metabolism. The relationship between Trisomy 21 and lactic acid accumulation in infants is complex and multifactorial. According to the most recent and highest quality study available, 1, individuals with Down syndrome have unique and complex care needs, including cardiovascular and multisystem health concerns that can interact with each other to amplify adverse effects.
Some key points to consider when evaluating the relationship between Trisomy 21 and lactic acid accumulation include:
- Mitochondrial dysfunction and altered energy metabolism, which can lead to increased lactate production 2
- Increased oxidative stress, which can contribute to cellular damage and dysfunction 2
- Cardiac function abnormalities, including reduced tricuspid valve A-wave velocity and increased myocardial performance index, which can impact lactate metabolism 2
- Hypoxemia, which can occur in infants with Trisomy 21, particularly in the absence of congenital heart defects, and can contribute to lactic acidosis 3
When caring for a child with Down syndrome who is ill, clinicians should maintain a higher index of suspicion for metabolic derangements, including lactic acidosis. Regular monitoring of acid-base status and lactate levels is advisable during significant illnesses or perioperative periods. Treatment focuses on addressing the underlying cause of metabolic stress, ensuring adequate oxygenation, treating infections promptly, maintaining hydration, and supporting circulation. In severe cases of lactic acidosis, sodium bicarbonate may be considered, though its use remains controversial. The tendency toward lactate accumulation in Down syndrome relates to mitochondrial dysfunction, increased oxidative stress, and altered energy metabolism that are characteristic of the syndrome's cellular phenotype.
It is essential to prioritize the management of underlying health conditions, such as congenital heart disease, and to provide coordinated interdisciplinary care to optimize quality of life and functional status for individuals with Trisomy 21 1.