Biochemical pathways are fundamental to normal body and brain function.  Changes in those pathways can disrupt not only the pathway itself, but also the processes and functions that rely on the pathway’s products and byproducts.  The Branch funds research about biochemical processes and metabolism as these topics relate to brain functioning, brain injury, and long-term consequences to the brain.

The Branch researches a number of disorders within this category, including hypoxia/ischemia, very low birthweight, phenylketonuria (PKU), mitochondrial diseases, amino-acid metabolism disorders, and the effects of malnutrition.

Disorders of metabolism--Disorders of amino acid, carbohydrate, lipid, lysosomal enzymes, purine, and micronutrient (trace metal) metabolism that impact on brain function are of major concern. The development of animal models for understanding pathophysiology, functional deficits, and evaluating therapeutic approaches, including gene therapy, is encouraged. Related studies of behavioral genetics and genetic counseling are also supported.

Toxicology and Environmental Factors--Studies of brain development and function have well established the damaging effects of environmental exposure to lead, mercury, and other toxins. Alcohol consumption during pregnancy--when it results in fetal alcohol syndrome--has emerged as one of the leading causes of mental retardation. Research studies and surveillance of these and other agents, such as anticonvulsant and neuroleptic drugs, infection (especially the effects of HIV/AIDS on brain development), and trauma, are needed