IGF Acid-Labile Subunit (ALS) Deficiency

What is IGF Acid-Labile Subunit (ALS) Deficiency?

IGF Acid-Labile Subunit deficiency is a rare genetic condition that affects growth and development. This condition involves a protein called ALS that helps regulate how your body uses growth factors. When ALS is missing or not working properly, it disrupts the normal balance of growth-related proteins in your blood.

In healthy bodies, ALS forms a complex with two other proteins called IGF-1 and IGFBP-3. This complex helps IGF-1 stay in your bloodstream longer so it can do its job promoting growth. When ALS is deficient, IGF-1 levels appear lower than expected even though your pituitary gland produces normal amounts of growth hormone. This disconnect between normal growth hormone and low IGF-1 is a hallmark of this condition.

Most people with ALS deficiency experience mild short stature, meaning they are shorter than average for their age and family. The condition is typically inherited in an autosomal recessive pattern, which means both parents must carry the genetic mutation. While the growth effects are usually modest, understanding this condition helps explain growth patterns that might otherwise seem puzzling.

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Symptoms

Mild short stature or slower than expected growth during childhood
Height below the expected range based on parental heights
Normal body proportions despite shorter stature
Delayed puberty in some cases
Low IGF-1 levels on blood tests despite normal growth hormone
Normal bone age or slightly delayed skeletal maturation

Many people with ALS deficiency have no other health problems besides shorter stature. Some individuals may not realize they have this condition until growth concerns prompt medical evaluation. The symptoms are generally mild compared to other growth disorders.

Causes and risk factors

ALS deficiency is caused by mutations in the IGFALS gene, which provides instructions for making the acid-labile subunit protein. This genetic mutation is inherited from both parents in an autosomal recessive pattern. Each parent carries one copy of the mutated gene but typically shows no symptoms themselves. When a child inherits two mutated copies, one from each parent, ALS deficiency develops.

The condition is not caused by lifestyle factors, environmental exposures, or nutritional deficiencies. It is present from birth due to the genetic mutation. Risk factors include having parents who are carriers of the IGFALS gene mutation, particularly in families with consanguinity or certain ethnic backgrounds where the mutation may be more common. There is no way to prevent the condition since it results from inherited genetic factors.

How it's diagnosed

ALS deficiency is diagnosed through a combination of clinical evaluation and blood testing. Doctors typically begin by measuring growth hormone levels and IGF-1 levels. The key finding is low IGF-1 despite normal growth hormone secretion during standard stimulation tests. This unusual pattern prompts further investigation into why IGF-1 remains low when growth hormone production is adequate.

Rite Aid offers IGF-1 testing as an add-on to our preventive health panel. Measuring your IGF-1 levels can help identify abnormal patterns that may suggest ALS deficiency or other growth-related conditions. If initial testing shows low IGF-1, your doctor may order genetic testing to confirm mutations in the IGFALS gene. Additional tests may include IGFBP-3 measurements and assessment of the ternary complex that ALS normally forms.

Treatment options

Regular monitoring of growth patterns and development during childhood
Nutritional counseling to ensure adequate protein and calorie intake for growth
Evaluation by a pediatric endocrinologist for growth concerns
Growth hormone therapy is typically not effective since natural GH production is normal
Genetic counseling for families to understand inheritance patterns
Psychological support if shorter stature affects self-esteem
Management of delayed puberty if it occurs
Regular follow-up to monitor bone health and metabolic markers

Frequently asked questions

IGF Acid-Labile Subunit deficiency is a rare genetic condition affecting a protein that helps regulate growth factors in your body. People with this condition have low IGF-1 levels despite normal growth hormone production. This typically results in mild short stature but few other health problems.

The primary symptom is mild short stature, meaning height below what would be expected based on family genetics. Some people may experience delayed puberty or slower growth during childhood. Most individuals have normal body proportions and no other significant health issues related to this condition.

Diagnosis involves blood tests measuring IGF-1 and growth hormone levels. The characteristic finding is low IGF-1 despite normal growth hormone secretion. Genetic testing can confirm mutations in the IGFALS gene that cause the condition.

Yes, blood tests measuring IGF-1 levels are the first step in detecting this condition. Rite Aid offers IGF-1 testing as an add-on to our preventive health panel. Low IGF-1 with normal growth hormone suggests the possibility of ALS deficiency and warrants further evaluation.

Yes, ALS deficiency is inherited in an autosomal recessive pattern. This means both parents must carry one copy of the mutated IGFALS gene for a child to develop the condition. Parents who are carriers typically have no symptoms themselves.

Treatment focuses on monitoring growth and development rather than specific medications. Growth hormone therapy is usually not helpful since natural growth hormone production is normal. Nutritional support, genetic counseling, and regular endocrinology follow-up are important parts of care.

Most people with ALS deficiency remain shorter than average but still achieve reasonable adult heights. The degree of short stature is typically mild. Final height depends on many factors including family genetics and overall health during growth years.

In growth hormone deficiency, the pituitary gland does not produce enough growth hormone. In ALS deficiency, growth hormone production is normal but IGF-1 levels are low due to problems with the ALS protein. This distinction affects treatment options and prognosis.

ALS deficiency is very rare, with only a small number of cases reported worldwide. The exact prevalence is unknown. It may be underdiagnosed because symptoms are mild and some people never seek medical evaluation for their shorter stature.

IGF-1 testing is helpful if you or your child have unexplained short stature or growth concerns. It can identify abnormal patterns that suggest ALS deficiency or other growth-related conditions. Talk to your doctor about whether IGF-1 testing is appropriate for your situation.