Vitamin B 6 is an important vitamin for normal brain function. The metabolism of dietary vitamin B 6 to its active cofactor pyridoxal 5´-phosphate is described. The mechanism of action of pyridoxal 5´-phosphate is described, as are some important functions in the brain. The clinical features and biochemistry of three inborn errors of metabolism affecting brain pyridoxal 5´-phosphate concentrati...

Because of their prevalence, severity and lack of effective treatments, inborn errors of metabolism need novel and more effective therapeutic approaches. The opportunity for an early treatment coming from expanded newborn screening has made this need even more urgent. To meet this demand, a growing number of novel treatments are entering in the phase of clinical development. Strategies to overc...

Fructose is one of the main sweetening agents in the human diet and its ingestion is increasing globally. Dietary sugar has particular effects on those whose capacity to metabolize fructose is limited. If intolerance to carbohydrates is a frequent finding in children, inborn errors of carbohydrate metabolism are rare conditions. Three inborn errors are known in the pathway of fructose metabolis...

A brief review of the presence and the age-associated changes of enzymatic activities of the lens metabolism is given. A consideration of the data on the activities of some enzymes of different animal species indicates that changes in lens metabolism related to age should be controlled by multiple sampling at intervals of aging over a wide age span rather than at fust two ages. Changes in the c...