Propionic Acidemia (PA) is an inherited metabolic disorder where the body cannot properly break down certain fats and amino acids. This breakdown issue leads to a buildup of harmful substances, called organic acids, in the blood and urine.
Understanding Propionic Acidemia
PA stems from a defect in the enzyme propionyl-CoA carboxylase. This enzyme is crucial for processing specific amino acids (the building blocks of proteins) and fats. When this enzyme doesn't function correctly, these substances accumulate, leading to various health problems.
Cause of PA
PA is caused by a mutation in one of the genes responsible for producing propionyl-CoA carboxylase. It's an autosomal recessive disorder, meaning that both parents must carry a copy of the mutated gene for their child to inherit the condition.
Consequences of PA
The accumulation of organic acids can cause several health issues, including:
- Neurological problems: Such as seizures, developmental delays, and intellectual disability.
- Metabolic crises: Episodes of severe illness with symptoms like vomiting, lethargy, and coma. These crises can be triggered by infections, stress, or dietary changes.
- Feeding difficulties: Many infants with PA have difficulty feeding and may experience poor weight gain.
- Cardiomyopathy: Weakening of the heart muscle.
- Pancreatitis: Inflammation of the pancreas.
Diagnosis and Management
PA is typically diagnosed through newborn screening. Management involves a specialized diet that restricts the intake of certain amino acids and fats, along with medications to help reduce the buildup of toxic substances. Regular monitoring by a metabolic specialist is crucial for managing the condition and preventing complications.
