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Reduced insulin like growth factor binding protein acid labile subunit concentration

MedGen UID:
1390100
•Concept ID:
C4321359
•
Finding
Synonyms: Acid-labile subunit deficiency; Decreased levels of acid labile subunit; Reduced insulin like growth factor binding protein acid labile subunit level
 
HPO: HP:0045046

Definition

An abnormally decreased concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced insulin like growth factor binding protein acid labile subunit concentration

Conditions with this feature

Short stature due to primary acid-labile subunit deficiency
MedGen UID:
859716
•Concept ID:
C3900122
•
Laboratory or Test Result
Acid-labile subunit deficiency is characterized by severely reduced serum insulin-like growth factor I (IGF1; 147440) and IGF-binding protein-3 (IGFBP3; 146732) concentrations that are incongruent with an associated mild growth retardation (height, -2 to -3 SD before and during puberty). Pubertal delay in boys and insulin insensitivity are common findings (summary by Domene et al., 2011).
Short stature due to primary acid-labile subunit deficiency

Professional guidelines

PubMed

Noonan syndrome: relationships between genotype, growth, and growth factors.
Limal JM, Parfait B, Cabrol S, Bonnet D, Leheup B, Lyonnet S, Vidaud M, Le Bouc Y
J Clin Endocrinol Metab 2006 Jan;91(1):300-6. Epub 2005 Nov 1 doi: 10.1210/jc.2005-0983. PMID: 16263833

Recent clinical studies

Etiology

Noonan syndrome: relationships between genotype, growth, and growth factors.
Limal JM, Parfait B, Cabrol S, Bonnet D, Leheup B, Lyonnet S, Vidaud M, Le Bouc Y
J Clin Endocrinol Metab 2006 Jan;91(1):300-6. Epub 2005 Nov 1 doi: 10.1210/jc.2005-0983. PMID: 16263833
Plasma insulin-like growth factors (IGFs), IGF-Binding proteins (IGFBPs), acid-labile subunit (ALS) and IGFBP-3 proteolysis in individuals with clinical characteristics of Sotos syndrome.
de Boer L, Hoogerbrugge CM, van Doorn J, van Buul-Offers SC, Karperien M, Wit JM
J Pediatr Endocrinol Metab 2004 Apr;17(4):615-27. doi: 10.1515/jpem.2004.17.4.615. PMID: 15198293
Diagnostic interest of acid-labile subunit measurement in relationship to other components of the IGF system in pediatric patients with growth or eating disorders.
Barrios V, Argente J, Muñoz MT, Pozo J, Chowen JA, Hernández M
Eur J Endocrinol 2001 Mar;144(3):245-50. doi: 10.1530/eje.0.1440245. PMID: 11248743
The study of spontaneous GH secretion after 36-h fasting distinguishes between GH-deficient and normal adults.
Aimaretti G, Colao A, Corneli G, Pivonello R, MacCario M, Morrison K, Pflaum CD, Strasburger CJ, Lombardi G, Ghigo E
Clin Endocrinol (Oxf) 1999 Dec;51(6):771-7. doi: 10.1046/j.1365-2265.1999.00885.x. PMID: 10619983

Diagnosis

Novel acid-labile subunit ( IGFALS ) mutation p.T145K (c.434C>A) in a patient with ALS deficiency, normal stature and immunological dysfunction.
Schreiner F, Schoenberger S, Koester B, Domené HM, Woelfle J
Horm Res Paediatr 2013;80(6):424-30. Epub 2013 Nov 27 doi: 10.1159/000355927. PMID: 24296365
Diagnostic interest of acid-labile subunit measurement in relationship to other components of the IGF system in pediatric patients with growth or eating disorders.
Barrios V, Argente J, Muñoz MT, Pozo J, Chowen JA, Hernández M
Eur J Endocrinol 2001 Mar;144(3):245-50. doi: 10.1530/eje.0.1440245. PMID: 11248743
The study of spontaneous GH secretion after 36-h fasting distinguishes between GH-deficient and normal adults.
Aimaretti G, Colao A, Corneli G, Pivonello R, MacCario M, Morrison K, Pflaum CD, Strasburger CJ, Lombardi G, Ghigo E
Clin Endocrinol (Oxf) 1999 Dec;51(6):771-7. doi: 10.1046/j.1365-2265.1999.00885.x. PMID: 10619983
Immunoblot studies of the acid-labile subunit (ALS) in biological fluids, normal human serum and in children with GH deficiency and GH receptor deficiency before and after long-term therapy with GH or IGF-I respectively.
Labarta JI, Gargosky SE, Simpson DM, Lee PD, Argente J, Guevara-Aguirre J, Rosenfeld RG
Clin Endocrinol (Oxf) 1997 Dec;47(6):657-66. doi: 10.1046/j.1365-2265.1997.2581078.x. PMID: 9497872

Therapy

Noonan syndrome: relationships between genotype, growth, and growth factors.
Limal JM, Parfait B, Cabrol S, Bonnet D, Leheup B, Lyonnet S, Vidaud M, Le Bouc Y
J Clin Endocrinol Metab 2006 Jan;91(1):300-6. Epub 2005 Nov 1 doi: 10.1210/jc.2005-0983. PMID: 16263833
A paradoxical gender dissociation within the growth hormone/insulin-like growth factor I axis during protracted critical illness.
Van den Berghe G, Baxter RC, Weekers F, Wouters P, Bowers CY, Veldhuis JD
J Clin Endocrinol Metab 2000 Jan;85(1):183-92. doi: 10.1210/jcem.85.1.6316. PMID: 10634385
The effect of an intravenous infusion of IGF-I and insulin on IGFBP-1, IGFBP-3, acid labile subunit, free and bound IGF-I, catecholamines and potassium in normal volunteers during an amino acid and glucose clamp.
Russell-Jones DL, Umpleby AM, Shojaee-Moradie F, Boroujerdi MA, Jones RH, Baxter RC, Sönksen PH
Clin Endocrinol (Oxf) 1997 Dec;47(6):685-91. doi: 10.1046/j.1365-2265.1997.3161133.x. PMID: 9497875
Immunoblot studies of the acid-labile subunit (ALS) in biological fluids, normal human serum and in children with GH deficiency and GH receptor deficiency before and after long-term therapy with GH or IGF-I respectively.
Labarta JI, Gargosky SE, Simpson DM, Lee PD, Argente J, Guevara-Aguirre J, Rosenfeld RG
Clin Endocrinol (Oxf) 1997 Dec;47(6):657-66. doi: 10.1046/j.1365-2265.1997.2581078.x. PMID: 9497872

Prognosis

Diagnostic interest of acid-labile subunit measurement in relationship to other components of the IGF system in pediatric patients with growth or eating disorders.
Barrios V, Argente J, Muñoz MT, Pozo J, Chowen JA, Hernández M
Eur J Endocrinol 2001 Mar;144(3):245-50. doi: 10.1530/eje.0.1440245. PMID: 11248743

Clinical prediction guides

Isolation of the cDNA encoding the acid labile subunit (ALS) of the 150 kDa IGF-binding protein complex in cattle and ALS regulation during the transition from pregnancy to lactation.
Kim JW, Rhoads RP, Segoale N, Kristensen NB, Bauman DE, Boisclair YR
J Endocrinol 2006 Jun;189(3):583-93. doi: 10.1677/joe.1.06824. PMID: 16731789
Total absence of functional acid labile subunit, resulting in severe insulin-like growth factor deficiency and moderate growth failure.
Hwa V, Haeusler G, Pratt KL, Little BM, Frisch H, Koller D, Rosenfeld RG
J Clin Endocrinol Metab 2006 May;91(5):1826-31. Epub 2006 Feb 28 doi: 10.1210/jc.2005-2842. PMID: 16507628
Noonan syndrome: relationships between genotype, growth, and growth factors.
Limal JM, Parfait B, Cabrol S, Bonnet D, Leheup B, Lyonnet S, Vidaud M, Le Bouc Y
J Clin Endocrinol Metab 2006 Jan;91(1):300-6. Epub 2005 Nov 1 doi: 10.1210/jc.2005-0983. PMID: 16263833
Acid-labile subunit deficiency: phenotypic similarities and differences between human and mouse.
Domené HM, Bengolea SV, Jasper HG, Boisclair YR
J Endocrinol Invest 2005;28(5 Suppl):43-6. PMID: 16114275
Increased insulin-like growth factor (IGF)-II and IGF/IGF-binding protein ratio in prepubertal constitutionally tall children.
Garrone S, Radetti G, Sidoti M, Bozzola M, Minuto F, Barreca A
J Clin Endocrinol Metab 2002 Dec;87(12):5455-60. doi: 10.1210/jc.2002-020614. PMID: 12466336

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