[Metabolic diseases caused by alterations in transporters]

Metabolic diseases caused by transporter dysfunction are inherited disorders resulting from defects in membrane transport proteins. These proteins allow the passage of nutrients, ions, and other molecules across cell membranes. If there is a malfunction, substances do not enter the cell, are not reabsorbed, or are not distributed correctly, even if present in normal amounts. Intracellular metabolism is normal; the problem lies in the movement of the molecule. These diseases are caused by mutations in genes that encode transporters and impair intestinal absorption (Menkes disease), renal reabsorption (cystinuria), or the passage of substances to specific tissues such as the brain (type I glucose transporter deficiency), muscle (mitochondrial carnitine transporter deficiency), or liver (Wilson disease). They are generally autosomal recessive inherited diseases with highly varied clinical manifestations, including seizures, developmental delay, intellectual disability, autism, and movement disorders. In the text we review some of the most common diseases of interest to neuropediatricians. Many of these diseases have early biochemical or molecular diagnosis and therapeutic options that improve the prognosis.