very long chain acyl-CoA dehydrogenase deficiency

Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD)

VLCADD is a rare genetic disorder that affects the body's ability to convert certain fats into energy. This condition occurs when an enzyme called very long chain acyl-CoA dehydrogenase (VLCAD) is missing or not working properly [5].

Causes and Symptoms

The VLCAD enzyme plays a crucial role in breaking down long-chain fatty acids, which are essential for energy production. When this enzyme is deficient, the body cannot convert these fats into energy, leading to various symptoms [1]. Some of the common signs and symptoms of VLCADD include:

• Weakness
• Tiredness or lack of energy (lethargy)
• Enlarged liver (hepatomegaly)
• Heart problems (can be life-threatening) [8]
• Sleeping longer or more often
• Tiredness
• Behavior changes
• Muscle weakness (hypotonia)
• Irritability
• Poor appetite
• Fever [9]

Inheritance and Diagnosis

VLCADD is an inherited disorder, meaning it can be passed down from parents to their children. The condition is caused by mutations in the ACADVL gene [6]. Diagnosing VLCADD typically involves a combination of clinical evaluation, laboratory tests, and genetic analysis.

References:

[1] It occurs when an enzyme needed to break down long-chain fatty acids is missing or not working properly. [5] VLCAD happens when an enzyme called “very long chain acyl-CoA dehydrogenase” is missing or not working. This enzyme breaks down certain fats from the food we eat. [6] Very-Long-Chain Acyl-CoA dehydrogenase (VLCAD) deficiency is an inherited metabolic disorder caused by mutations in the ACADVL gene. [8] Sep 15, 2024 — Signs and Symptoms · Weakness · Tiredness or lack of energy (lethargy) · Enlarged liver (hepatomegaly) · Heart problems (can be life-threatening) [9] What are the signs and symptoms? · Sleeping longer or more often · Tiredness · Behavior changes · Muscle weakness (hypotonia) · Irritability · Poor appetite · Fever

Early-Onset VLCADD

Children with early-onset VLCADD typically present with symptoms within days or weeks after birth [1]. These infants may show signs of low blood sugar, lethargy, and poor appetite. As they grow older, they may experience muscle weakness, irritability, and behavior changes.

Common Signs and Symptoms

The common signs and symptoms of VLCAD deficiency include:

• Sleeping longer or more often
• Tiredness
• Behavior changes
• Muscle weakness (hypotonia)
• Irritability
• Poor appetite
• Fever
• Diarrhea
• Low blood sugar (hypoglycemia) [6][7]

Severe Forms of VLCAD

In the most severe forms of VLCAD, children may experience life-threatening low blood sugar (hypoglycemia), high blood ammonia levels, and lethargy. These symptoms can be a result of the body's inability to convert certain types of fat into energy [9].

Later-Onset VLCADD

Moderately severe infantile/childhood VLCADD has a later onset (early neonatal period to early childhood) and usually presents with similar signs and symptoms, including muscle weakness, lethargy, and poor appetite. Pericardial effusion is also reported in some cases [4].

References:

[1] Early-onset VLCADD typically presents within days or weeks after birth. [6] Common signs and symptoms include sleeping longer or more often, tiredness, behavior changes, irritability, poor appetite, fever, diarrhea, low blood sugar (hypoglycemia). [7] These signs include sleeping longer or more often, tiredness, behavior changes, irritability, poor appetite, fever, diarrhea, low blood sugar (hypoglycemia), ... [9] Life-threatening low blood sugar (hypoglycemia); High blood ammonia.

Diagnostic Tests for Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency

Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is a genetic disorder that affects the body's ability to convert certain fatty acids into energy. Diagnostic tests are crucial in confirming the diagnosis of this condition.

Blood and/or Urine Tests Blood and urine tests can help detect VLCAD deficiency by measuring the levels of specific enzymes and metabolites in the blood and urine. These tests can identify abnormalities in the metabolism of very long-chain fatty acids, which is a hallmark of VLCAD deficiency [1].

Echocardiogram and/or Other Heart Tests An echocardiogram may be performed to evaluate the heart's function and structure. This test can help detect any cardiac abnormalities associated with VLCAD deficiency [2].

Genetic Testing using a Blood Sample Genetic testing is considered the gold standard for diagnosing VLCAD deficiency. A blood sample is used to analyze the ACADVL gene, which is responsible for encoding the VLCAD enzyme. Mutations in this gene can confirm the diagnosis of VLCAD deficiency [3][4].

Small Skin Sample (Biopsy) A small skin biopsy may be performed to collect a tissue sample for genetic testing. This test can help identify mutations in the ACADVL gene that are associated with VLCAD deficiency [5].

In summary, diagnostic tests for VLCAD deficiency include blood and/or urine tests, echocardiogram and/or other heart tests, genetic testing using a blood sample, and small skin biopsy.

References: [1] Context 4 [2] Context 3 [3] Context 5 [4] Context 7 [5] Context 9

Treatment Options for Very Long Chain Acyl-CoA Dehydrogenase Deficiency (LCAD)

Very long chain acyl-CoA dehydrogenase deficiency (VLCAD) is a genetic disorder that affects the body's ability to convert certain fats into energy. While there is no cure for VLCAD, various treatment options are available to manage the condition and prevent complications.

1. Dietary Management

• A special diet is often prescribed to individuals with VLCAD deficiency, particularly those with early-onset VLCAD [5].
• The diet focuses on preventing acute episodes of low blood sugar (hypoglycemia) by ensuring regular and frequent meals and snacks [8][9].
• A high-carbohydrate and low-fat diet is recommended to help manage the condition [9].

2. Supplements

• MCT oil, which contains medium-chain fatty acids, may be prescribed by a doctor to help alleviate symptoms [3].
• L-carnitine supplements may also be suggested to support energy production in the body [3].

3. Gene Therapy

• Research has shown promise in using gene therapy to correct VLCAD deficiency in mice [6].
• However, this treatment option is still in its experimental stages and not yet available for human use.

4. Multidisciplinary Care

• A team of healthcare professionals, including a primary doctor and a metabolic specialist, work together to provide comprehensive care for individuals with VLCAD [7].

It's essential to note that each individual with VLCAD may require a personalized treatment plan, taking into account their specific needs and circumstances.

References: [3] - MCT oil and L-carnitine supplements [5] - Special diet for early-onset VLCAD [6] - Gene therapy research in mice [7] - Multidisciplinary care team [8] - Treatment of VLCAD deficiency [9] - Regular meals and snacks, high-carb and low-fat diet

Differential Diagnosis of Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD)

Very long chain acyl-CoA dehydrogenase deficiency (VLCADD) is a rare genetic disorder that can be challenging to diagnose. However, there are several conditions that should be considered in the differential diagnosis of VLCADD.

Conditions to Consider:

• Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: This condition is another type of fatty acid oxidation disorder that can present with similar symptoms to VLCADD [3].
• Glutaricaciduria II (GA II): Also known as succinyl-CoA:3-ketoacid CoA transferase deficiency, this condition is a rare genetic disorder that affects the metabolism of certain amino acids and can be mistaken for VLCADD [4].
• Reye syndrome: This is a rare but serious condition that affects the brain and liver, and can be caused by a viral infection or other factors. It can present with similar symptoms to VLCADD, such as liver dysfunction and encephalopathy [4].

Diagnostic Considerations:

When considering the differential diagnosis of VLCADD, it's essential to perform a thorough medical history and physical examination. Laboratory tests, including blood acylcarnitine profiling, may also be necessary to confirm the diagnosis [9]. A detailed analysis of the patient's symptoms, medical history, and laboratory results can help differentiate VLCADD from other conditions.

References:

• [3] May 23, 2024 — Differential Diagnosis. Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency.
• [4] Jul 1, 2021 — These include medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, glutaricaciduria II (GA II), and Reye syndrome.
• [9] by M Gérard · 2024 — The diagnosis of VLCADD is performed by the determination of the profile of blood acylcarnitines, done on plasma/serum or on a dried blood spot on a blotter.