Acid-labile subunit deficiency

Definition:

Acid-labile subunit (ALS) deficiency is characterized by severe reduction of IGF-I and IGFBP-3 that remain low after GH treatment, associated with mild growth retardation. ALS, encoded by the IGFALS gene, is mainly produced by the liver. The patients were found to be carriers for IGFALS gene mutations. ALS protein is a key component of the circulating IGF ternary complex. The main role of ALS is the extension of IGF-I half life by protecting it from degradation and preventing the passage of IGF-I to the extravascular compartment.

References:

[1]. Horacio M Domené, et al. Acid-labile subunit (ALS) deficiency. Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):101-13. [Content Brief]

[2]. Horacio M Domené, et al. Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations. J Clin Endocrinol Metab. 2007 Nov;92(11):4444-50. [Content Brief]

[3]. Karen E Heath, et al. Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia. J Clin Endocrinol Metab. 2008 May;93(5):1616-24. [Content Brief]

[4]. Y R Boisclair, et al. The acid-labile subunit (ALS) of the 150 kDa IGF-binding protein complex: an important but forgotten component of the circulating IGF system. J Endocrinol. 2001 Jul;170(1):63-70. [Content Brief]

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