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Archivos argentinos de pediatría
versión impresa ISSN 0325-0075versión On-line ISSN 1668-3501
Resumen
ZAIDMAN, Verónica E. Analysis of acid-labile subunit and its usefulness in pediatrics. Arch. argent. pediatr. [online]. 2017, vol.115, n.4, pp.391-398. ISSN 0325-0075. http://dx.doi.org/10.5546/aap.2017.391.
The acid-labile subunit (ALS) is an 85 kDa glycoprotein that belongs to the leucine-rich repeat superfamily. It mainly circulates in serum bound to a high molecular weight ternary complex. The main and most widely studied function of ALS is to prolong the half-life of the binary complex formed by insulin-like growth factors type 1 and 2 and its transport proteins 3 and 5. ALS serum levels are lower in neonates, reach a peak in late puberty, and then slowly decrease throughout adulthood. ALS deficiency has consequences on growth, hydrocarbon and bone metabolism, and, in some cases, it affects pubertal development. To date, 25 patients with complete ALS deficiency due to IGFALS gene mutations have been found.
Palabras clave : Acid-labile subunit; Insulin-like growth factor-1; Short stature.