Disorder of aromatic amino-acid metabolism, unspecified Save

Disorder of Aromatic Amino-Acid Metabolism, Unspecified

Disorder of Aromatic Amino-Acid Metabolism, Unspecified is a rare genetic condition that affects the body's ability to metabolize certain amino acids. Amino acids are essential building blocks of proteins, and aromatic amino acids are a specific type of amino acid that includes phenylalanine, tyrosine, and tryptophan. In people with this disorder, the body cannot properly break down these amino acids, leading to a buildup of toxic byproducts in the body.

Due to the rarity of this condition, it can be difficult to diagnose. Symptoms can vary widely, depending on the specific amino acid that is affected and the severity of the condition. Some common symptoms may include developmental delays, intellectual disability, seizures, skin rashes, and behavioral problems. It is important to note that not all people with this disorder will exhibit all of these symptoms.

1. Phenylketonuria (PKU)

PKU is a type of aromatic amino-acid metabolism disorder that specifically affects the breakdown of phenylalanine. This condition is characterized by high levels of phenylalanine in the blood, which can lead to intellectual disability, seizures, and other neurological problems if left untreated.

2. Alkaptonuria

Alkaptonuria is a rare genetic disorder that affects the breakdown of tyrosine. People with this condition experience a buildup of homogentisic acid, which can lead to joint pain, arthritis, and darkening of the skin and sclera.

3. Hartnup disease

Hartnup disease is a rare genetic condition that affects the absorption of tryptophan. People with this condition may experience skin rashes, neurological symptoms, and psychiatric symptoms.

Disorder of Aromatic Amino-Acid Metabolism, Unspecified is typically diagnosed through a combination of clinical evaluation, genetic testing, and biochemical testing. While there is no cure for this condition, treatment typically involves managing symptoms and preventing complications through diet and medication.

If you suspect that you or a loved one may have Disorder of Aromatic Amino-Acid Metabolism, Unspecified, it is important to speak with a healthcare professional for proper evaluation and diagnosis.