Acid-labile subunit (ALS) deficiency.

@article{Domen2011AcidlabileS,
  title={Acid-labile subunit (ALS) deficiency.},
  author={Horacio M Domen{\'e} and Vivian Hwa and H{\'e}ctor Guillermo Jasper and Ron G. Rosenfeld},
  journal={Best practice & research. Clinical endocrinology & metabolism},
  year={2011},
  volume={25 1},
  pages={101-13}
}
The acid-labile subunit (ALS) protein is crucial for maintaining the integrity of the circulating IGF/IGFBP system. In humans, complete ALS deficiency is characterized by severely reduced serum IGF-I and IGFBP-3 concentrations that is incongruent with the associated mild growth retardation (height SDS -2 to -3 SDS before and during puberty). Twenty-one patients have been described with ALS deficiency, representing 16 unique homozygous or compound heterozygous inactivating mutations of the… CONTINUE READING
20 Citations
42 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 20 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 42 references

The Effect of Heterozygous IGFALS Gene Variants on Height and the IGF System in Normal (N), Idiopathic Short Stature (ISS) and GH Deficient (GHD) Children

  • PA Domené HM Scaglia, AS Martinez, +8 authors HG. Jasper
  • The 92 nd Annual Meeting of The Endocrine Society…
  • 2010

A novel missense mutation of the ALSIGF gene causing a L172F substitution in LRR6 is associated with short stature in two Swedish children homozygous or compound heterozygous for the mutation

  • P Bang, Fureman A-L, Nilsson A-L
  • Hormone Research
  • 2009

Heterozygous IGFALS gene mutations are present in both idiopathic short stature (ISS) and in normal children: impact on height and acid-labile subunit (ALS) levels

  • PA Scaglia, HM Domené, AS Martinez
  • Hormone Research 2009;
  • 2009

Novel compound IGFALS mutation associated with impaired postnatal growth and low circulating IGF-I and IGFBP-3 levels

  • E Gallego-Gomez, J Sanchez del Pozo, JC Rojo
  • Hormone Research 2009; 72(Suppl
  • 2009

Similar Papers

Loading similar papers…