Long-chain acyl-CoA dehydrogenase deficiency
Long-chain Acyl-CoA Dehydrogenase Deficiency Long-chain acyl-CoA dehydrogenase deficiency (LCAD deficiency) is a rare genetic disorder that affects the body's ability to break down certain long-chain fatty acids into energy, particularly during periods of fasting. This condition is part of a group of disorders known as fatty acid oxidation disorders.
Pathophysiology[edit | edit source]
LCAD deficiency is caused by mutations in the ACADL gene, which provides instructions for making an enzyme called long-chain acyl-CoA dehydrogenase. This enzyme is involved in the first step of the mitochondrial beta-oxidation pathway, a process that converts long-chain fatty acids into energy. When this enzyme is deficient or nonfunctional, long-chain fatty acids cannot be effectively broken down, leading to an accumulation of these fatty acids and their derivatives in the body.
Symptoms[edit | edit source]
The symptoms of LCAD deficiency can vary widely among affected individuals, but they often include:
- Hypoglycemia (low blood sugar)
- Muscle weakness
- Lethargy
- Liver dysfunction
- Cardiomyopathy (heart muscle disease)
Symptoms may present in infancy or early childhood, often triggered by fasting or illness.
Diagnosis[edit | edit source]
Diagnosis of LCAD deficiency typically involves:
- Newborn screening tests that detect elevated levels of certain acylcarnitines in the blood.
- Genetic testing to identify mutations in the ACADL gene.
- Biochemical tests to assess fatty acid oxidation in cultured fibroblasts or other tissues.
Treatment[edit | edit source]
Management of LCAD deficiency focuses on preventing metabolic crises and maintaining normal energy levels. This includes:
- A high-carbohydrate, low-fat diet to reduce reliance on fatty acid oxidation.
- Frequent meals and snacks to avoid fasting.
- Supplementation with medium-chain triglycerides (MCTs), which can be used as an alternative energy source.
Prognosis[edit | edit source]
The prognosis for individuals with LCAD deficiency varies. With early diagnosis and proper management, many individuals can lead relatively normal lives. However, severe cases can result in life-threatening complications, particularly if not managed appropriately.
See Also[edit | edit source]
- Fatty acid oxidation disorders
- Medium-chain acyl-CoA dehydrogenase deficiency
- Carnitine palmitoyltransferase II deficiency
External Links[edit | edit source]
NIH genetic and rare disease info[edit source]
Long-chain acyl-CoA dehydrogenase deficiency is a rare disease.
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Contributors: Prab R. Tumpati, MD
