Other disorders of amino-acid metabolism Save

Other disorders of amino-acid metabolism

Amino acids are building blocks of protein and are essential for the proper functioning of the human body. However, certain genetic disorders can interfere with amino acid metabolism, leading to a range of health problems. Here are some of the other disorders of amino-acid metabolism:

1. Homocystinuria: This is a rare genetic disorder that affects the metabolism of the amino acid methionine. People with homocystinuria have difficulty breaking down methionine, leading to a buildup of homocysteine in the blood and urine. Symptoms may include developmental delays, vision problems, and an increased risk of blood clots and stroke.
2. Maple syrup urine disease: This is a rare genetic disorder that affects the metabolism of three amino acids: leucine, isoleucine, and valine. People with this disorder cannot properly break down these amino acids, leading to a buildup of toxic substances in the blood and urine. Symptoms may include poor feeding, vomiting, seizures, and a sweet odor to urine and sweat.
3. Citrullinemia: This is a rare genetic disorder that affects the metabolism of the amino acid citrulline. People with citrullinemia have difficulty breaking down citrulline, leading to a buildup of ammonia in the blood and brain. Symptoms may include poor feeding, vomiting, seizures, and developmental delays.
4. Phenylketonuria (PKU): This is a genetic disorder that affects the metabolism of the amino acid phenylalanine. People with PKU cannot properly break down phenylalanine, leading to a buildup of toxic substances in the blood and brain. Symptoms may include developmental delays, intellectual disability, seizures, and behavioral problems.

These disorders of amino-acid metabolism are usually diagnosed in childhood through newborn screening tests. Treatment may involve dietary changes, such as restricting certain amino acids or taking supplements, and medication to manage symptoms. Early diagnosis and treatment can help prevent serious complications and improve quality of life.

It's important to consult a healthcare professional if you or your child experience any symptoms of these disorders. They can provide a proper diagnosis and develop a treatment plan tailored to your specific needs.