This publication, arising from the July 2024 symposium on the Connection Between Physics and Metabolism in Brain Functions, examines the role of physical processes in brain metabolism. It highlights how these processes, alongside molecular mechanisms, govern cellular homeostasis and contribute to phenotypic variability in genetic disorders. By bringing together expertise across disciplines, the initiative advances […]
This paper summarizes the expansion of newborn screening for inherited metabolic diseases, highlighting that its benefits vary across conditions. It emphasizes the need for a better understanding of the full disease spectrum and long-term outcomes, and advocates for involving adult metabolic specialists to refine screening programs so they target patients who truly benefit while minimizing […]
This paper summarizes the growing number of adults diagnosed and managed with inherited metabolic diseases, highlighting a substantial increase in patient numbers over the past decade. It shows that many patients are diagnosed in adulthood, and that the diversity of conditions is broad. These findings underscore the expanding need for specialized adult metabolic care and […]
This paper highlights that inherited metabolic diseases are no longer limited to pediatrics, as about half of patients are now adults. It emphasizes that pediatricians can learn from adult medicine, particularly regarding long-term outcomes, milder adult forms of disease, and adult-onset conditions that broaden understanding of metabolism. Overall, it stresses the importance of close collaboration […]
The METAglut1 test is a simple, robust, and non-invasive diagnostic tool for GLUT1 deficiency, enabling broader screening in both pediatric and adult populations, including patients with atypical forms of this treatable disease. This study provides level I evidence that a positive METAglut1 test can reliably distinguish patients suspected of having GLUT1 deficiency from those with […]
This study describes late-onset MTHFR deficiency, a usually severe neonatal disease that can also present in adolescence or adulthood with mainly neurological symptoms such as gait disturbances, cognitive decline, and epilepsy. Diagnosis is often significantly delayed, but treatment can reduce biochemical abnormalities and lead to clinical improvement or stabilization.
This study describes the largest cohort of urea cycle disorders diagnosed in adulthood, showing that these conditions can present later in life, often triggered by metabolic decompensation, or identified through family screening. It highlights that hyperammonemia can cause severe neurological, gastrointestinal, and psychiatric symptoms, frequently requiring intensive care and sometimes leading to death. The findings […]
This series documents the effective long-term use of triheptanoin in the treatment of 18 French patients with long-chain fatty acid oxidation disorders.
This paper proposes a simplified classification of inherited metabolic diseases into three main groups—small molecule disorders, complex molecule disorders, and energy metabolism defects—based on clinical and pathophysiological features, to improve understanding, diagnosis, and identification of treatable conditions.
This study shows that long-term treatment with triheptanoin in patients with GLUT1 deficiency can lead to sustained clinical benefits, particularly by reducing movement disorders. It suggests that triheptanoin is a valuable alternative to ketogenic diets, with good tolerability.