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Acid-labile subunit (ALS) deficiency.

Horacio M Domené1, Vivian Hwa, Héctor G Jasper

  • 1Centro de Investigaciones Endocrinológicas, División de Endocrinología, Hospital de Niños R Gutiérrez, Gallo 1330, Buenos Aires, Argentina.

Best Practice & Research. Clinical Endocrinology & Metabolism
|March 15, 2011
PubMed
Summary
This summary is machine-generated.

Acid-labile subunit (ALS) deficiency, caused by IGFALS gene mutations, leads to low IGF-I and IGFBP-3 levels. This condition presents with mild growth retardation disproportionate to hormone levels, often requiring consideration in short stature evaluations.

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Area of Science:

  • Endocrinology
  • Genetics
  • Pediatric Growth Disorders

Background:

  • The acid-labile subunit (ALS) protein is essential for the stability of circulating insulin-like growth factor (IGF) and IGF-binding protein (IGFBP) complexes.
  • Complete ALS deficiency in humans results in significantly low serum IGF-I and IGFBP-3 levels.
  • This deficiency is linked to mild growth retardation (height SDS -2 to -3), which appears disproportionate to the hormonal deficits.

Purpose of the Study:

  • To outline the clinical characteristics and diagnostic considerations for acid-labile subunit (ALS) deficiency.
  • To identify key indicators for considering ALS deficiency in the assessment of children with short stature.

Main Methods:

  • Review of clinical data from 21 patients with documented ALS deficiency.
  • Analysis of genetic mutations in the IGFALS gene in affected individuals.
  • Correlation of biochemical profiles (IGF-I, IGFBP-3) with growth parameters and clinical findings.

Main Results:

  • Sixteen unique inactivating mutations in the IGFALS gene were identified in the 21 patients.
  • Common findings include pubertal delay in boys and insulin insensitivity.
  • Mild growth retardation was observed, incongruent with the severity of IGF-I and IGFBP-3 reduction.

Conclusions:

  • Acid-labile subunit (ALS) deficiency is a genetic disorder affecting the IGF/IGFBP system, characterized by specific biochemical and growth patterns.
  • Consideration of ALS deficiency in children with short stature is warranted when presenting with normal GH response, low IGF-I and profoundly low IGFBP-3, mild growth retardation disproportionate to hormone levels, lack of response to IGF generation tests, and insulin insensitivity.