| H01907 | |
| H number | H01907 |
| Name | Acid-labile subunit deficiency |
| Description | 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. |
| Category | Endocrine and metabolic disease |
| Network | - |
| Gene | IGFALS [HSA:3483] [KO:K17256] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | See also H00254 Pituitary Dwarfism. |
| Other DBs | ICD-11: 5A61.0 ICD-10: E34.3 OMIM: 615961 |
| Reference | PMID:21396577 AUTHORS Domene HM, Hwa V, Jasper HG, Rosenfeld RG TITLE Acid-labile subunit (ALS) deficiency. JOURNAL Best Pract Res Clin Endocrinol Metab 25:101-13 (2011) DOI:10.1016/j.beem.2010.08.010 PMID:11431138 AUTHORS Boisclair YR, Rhoads RP, Ueki I, Wang J, Ooi GT TITLE The acid-labile subunit (ALS) of the 150 kDa IGF-binding protein complex: an important but forgotten component of the circulating IGF system. JOURNAL J Endocrinol 170:63-70 (2001) DOI:10.1677/joe.0.1700063 PMID:18303074 AUTHORS Heath KE, Argente J, Barrios V, Pozo J, Diaz-Gonzalez F, Martos-Moreno GA, Caimari M, Gracia R, Campos-Barros A TITLE 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. JOURNAL J Clin Endocrinol Metab 93:1616-24 (2008) DOI:10.1210/jc.2007-2678 PMID:17726072 AUTHORS Domene HM, Scaglia PA, Lteif A, Mahmud FH, Kirmani S, Frystyk J, Bedecarras P, Gutierrez M, Jasper HG TITLE Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations. JOURNAL J Clin Endocrinol Metab 92:4444-50 (2007) DOI:10.1210/jc.2007-1152 |