Acid-labile subunit (ALS) deficiency (ACLSD) constitutes the first monogenic defect involving a member of the Insulin-like Growth Factor (IGF) binding protein system. The lack of ALS completely disrupts the circulating IGF system. Autocrine/paracrine action of local produced IGF-I could explain the mild effect on growth.

In the present work we have revised the more relevant clinical and biochemical consequences of complete ACLSD in 61 reported subjects from 31 families. Low birth weight and/or length, reduced head circumference, height between −2 and −3 SD, pubertal delay and insulin resistance are commonly observed.

Partial ACLSD could be present in children initially labeled as idiopathic short stature, presenting low IGF-I levels, suggesting that one functional IGFALS allele is insufficient to stabilize ternary complexes.

Dysfunction of the GH-IGF axis observed in ACLSD may eventually result in increased risk for type-2 diabetes and tumor progression. Consequently, long term surveillance is recommended in these patients.

酸不稳定亚基（ALS）缺乏症（ACLSD）构成了第一个涉及胰岛素样生长因子（IGF）结合蛋白系统成员的单基因缺陷。ALS的缺乏完全破坏了循环中的IGF系统。局部产生的IGF-I的自分泌/旁分泌作用可以解释对生长的轻微影响。

在目前的工作中，我们对来自31个家庭的61个报告受试者的完整ACLSD的临床和生化后果进行了更相关的修订。通常观察到低出生体重和/或长，头围减小，身高在2-3和-3 SD之间，青春期延迟和胰岛素抵抗。

最初被标记为特发性矮小身材的儿童中可能存在部分ACLSD，表现出低的IGF-I水平，表明一个功能性IGFALS等位基因不足以稳定三元复合物。

在ACLSD中观察到的GH-IGF轴功能异常可能最终导致2型糖尿病和肿瘤进展的风险增加。因此，建议对这些患者进行长期监测。