Short-Chain Acyl-Coa Dehydrogenase Deficiency: Signs & Care

Short-chain acyl-CoA dehydrogenase deficiency is an inherited metabolic disorder that affects the body's ability to break down certain fats for energy. This condition disrupts the normal process of converting fats into usable energy, leading to potential health complications. The primary impact of Short-chain acyl-CoA dehydrogenase deficiency is a reduced capacity to generate energy efficiently, which can affect various bodily functions and overall well-being.

Symptoms of Short-Chain Acyl-Coa Dehydrogenase Deficiency

Individuals with Short-chain acyl-CoA dehydrogenase deficiency may experience a range of symptoms affecting various body systems.

Lethargy
Poor feeding
Vomiting
Seizures
Hypoglycemia
Metabolic acidosis
Muscle weakness
Enlarged liver
Low blood sugar levels

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Causes of Short-Chain Acyl-Coa Dehydrogenase Deficiency

Short-chain acyl-CoA dehydrogenase deficiency is primarily caused by genetic mutations that affect the enzyme responsible for breaking down certain fats for energy production in the body.

Genetic mutations
Inheritance of faulty genes
Autosomal recessive inheritance
Defect in the ACADS gene
Decreased enzyme activity

Types of Short-Chain Acyl-Coa Dehydrogenase Deficiency

Short-chain acyl-CoA dehydrogenase deficiency can manifest in various forms, affecting different aspects of energy metabolism in the body.

Neonatalonset SCAD deficiency: Presents in the first few days of life with symptoms such as lethargy, poor feeding, and hypoglycemia.
Childhoodonset SCAD deficiency: Symptoms typically appear in childhood and may include developmental delays, muscle weakness, and fatigue.
Adolescent/adultonset SCAD deficiency: Symptoms manifest later in life and can include exercise intolerance, muscle pain, and recurrent episodes of metabolic decompensation.
Asymptomatic SCAD deficiency: Some individuals with SCAD deficiency may remain asymptomatic throughout their lives, only being identified through newborn screening or genetic testing.
Severe SCAD deficiency: This rare form of the condition presents with more severe symptoms such as cardiomyopathy, seizures, and metabolic crises requiring immediate medical intervention.

Risk Factors

Individuals with Short-chain acyl-CoA dehydrogenase deficiency are at higher risk if they have a family history of the condition or if they carry specific genetic mutations.

Family history of the condition
Certain gene mutations
Consanguineous parents
Metabolic stress, such as fasting or illness

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Diagnosis of Short-Chain Acyl-Coa Dehydrogenase Deficiency

Short-chain acyl-CoA dehydrogenase deficiency is typically diagnosed through specialized laboratory tests that analyze specific markers in the blood.

Newborn screening
Genetic testing
Enzyme activity testing
Urine organic acid analysis
Blood acylcarnitine analysis

Treatment for Short-Chain Acyl-Coa Dehydrogenase Deficiency

Treatment for Short-chain acyl-CoA dehydrogenase deficiency focuses on managing symptoms and preventing complications through specific interventions.

Dietary Management: Individuals with Shortchain acylCoA dehydrogenase deficiency should follow a diet that is high in carbohydrates and low in fats to prevent the accumulation of toxic byproducts in the body.
Avoid Fasting: Patients should avoid prolonged periods of fasting and ensure regular intake of carbohydrates to provide energy and prevent the breakdown of fatty acids.
Supplementation: Some patients may benefit from specific supplements such as Lcarnitine to help improve fatty acid metabolism and energy production in the body.
Medical Monitoring: Regular medical monitoring and checkups are crucial to ensure early detection of any metabolic imbalances or complications associated with the condition.
Genetic Counseling: Genetic counseling is recommended for families affected by Shortchain acylCoA dehydrogenase deficiency to understand the inheritance pattern and risks associated with the condition.