Malonic acidemia
Malonic Acidemia Malonic acidemia, also known as malonyl-CoA decarboxylase deficiency, is a rare metabolic disorder characterized by the accumulation of malonic acid in the body. This condition is caused by a deficiency in the enzyme malonyl-CoA decarboxylase, which is crucial for the proper metabolism of certain fatty acids.
Pathophysiology[edit | edit source]
Malonic acidemia results from a defect in the malonyl-CoA decarboxylase enzyme, which is responsible for converting malonyl-CoA to acetyl-CoA. This enzyme deficiency leads to the accumulation of malonic acid and malonyl-CoA, disrupting normal metabolic processes.
Genetics[edit | edit source]
Malonic acidemia is inherited in an autosomal recessive pattern. Mutations in the MLYCD gene, which encodes the malonyl-CoA decarboxylase enzyme, are responsible for this condition. Both parents must carry one copy of the mutated gene to pass the disorder to their offspring.
Symptoms[edit | edit source]
Symptoms of malonic acidemia can vary but often include:
- Developmental delay
- Hypotonia (reduced muscle tone)
- Cardiomyopathy
- Metabolic acidosis
- Hypoglycemia
Diagnosis[edit | edit source]
Diagnosis of malonic acidemia is typically made through a combination of clinical evaluation, biochemical testing, and genetic testing. Elevated levels of malonic acid in the urine and blood are indicative of the disorder.
Treatment[edit | edit source]
There is no cure for malonic acidemia, but treatment focuses on managing symptoms and preventing metabolic crises. This may include:
- Dietary management to reduce the intake of certain fats
- Supplementation with carnitine
- Regular monitoring of metabolic status
Prognosis[edit | edit source]
The prognosis for individuals with malonic acidemia varies depending on the severity of the condition and the effectiveness of management strategies. Early diagnosis and intervention can improve outcomes.
Research[edit | edit source]
Ongoing research is focused on understanding the molecular mechanisms of malonic acidemia and developing potential therapies. Gene therapy and enzyme replacement therapy are areas of active investigation.
See Also[edit | edit source]
External Links[edit | edit source]
NIH genetic and rare disease info[edit source]
Malonic acidemia is a rare disease.
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Contributors: Prab R. Tumpati, MD
