Analysis of acid-labile subunit and its usefulness in pediatrics.

Abstract:

: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. :La subunidad ácido-lábil (acid-labile subunit; ALS, por sus siglas en inglés) es una glicoproteína de 85 kiloDalton (kD) que pertenece a la superfamilia de repeticiones ricas en leucina. Principalmente, circula en suero dentro de un complejo ternario de alto peso molecular. La principal y más estudiada función de la ALS es prolongar la vida media del complejo binario que forman los factores de crecimiento insulinosímil tipo 1 y 2 con sus proteínas de transporte 3 y 5. El nivel sérico de la ALS es menor en neonatos,aumenta para llegar a un pico en la pubertad tardía y luego disminuye lentamente durante la vida adulta. Su déficit tiene consecuencias sobre el crecimiento, el metabolismo hidrocarbonado, el óseo y, en algunos casos, en el desarrollo puberal. Hasta el momento, se han encontrado 25 pacientes con déficit completo de la ALS debido a mutaciones del gen IGFALS.

journal_name

Arch Argent Pediatr

authors

Zaidman VE

doi

10.5546/aap.2017.eng.391

subject

Has Abstract

pub_date

2017-08-01 00:00:00

pages

391-398

issue

4

eissn

0325-0075

issn

1668-3501

journal_volume

115

pub_type

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