Transformation of inborn reaction of leg flexion into conditioned escape response of leg extension was studied. The model of the so called precise reflex was used. A dog could avoid or escape the shock applied to the paw by placing this paw in a narrow ,,safety zone" located at a definite height above the floor. When the shock is applied to the paw located below this zone, the escape response i...

The human geneticist Archibald Garrod noted in 1931 that, "It is, of necessity, no easy matter to distinguish between immunity which is inborn and that which has been acquired" (The Inborn Factors in Disease). In this issue of Cell, Brodin et al. show that the heritability of blood counts rapidly decreases with age for the lymphoid subsets responsible for adaptive immunity, unlike cells from ot...

The differential diagnosis of the acutely ill newborn should include inborn errors of metabolism along with much more common conditions such as sepsis and hypoxemia. Testing recommendations, which can take place simultaneously with other studies, are presented for the evaluation of inborn errors in acutely ill newborns. Initial hospital-based tests include arterial blood gases, glucose, electro...

Inborn errors of metabolism are characterized by a significant heterogeneity in pathophysiological mechanisms and clinical manifestations. A variety of kidney disorders, inherited or acquired, can consist clinical signs of metabolic disorders. The most frequent of them include Fanconi syndrome, renal tubular acidosis, nephrolithiasis, renal cysts and acute kidney injury. On the other hand, many...

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...