Other disorders of aromatic amino-acid metabolism Save
ICD-10 code: E70.8
Chapter: Endocrine, nutritional and metabolic diseases
Other Disorders of Aromatic Amino-acid Metabolism
Aromatic amino-acid metabolism is a complex process that involves the breakdown and synthesis of several essential amino acids, including phenylalanine, tyrosine, and tryptophan. Disturbances in this pathway can lead to a variety of metabolic disorders, including phenylketonuria (PKU) and tyrosinemia. However, there are also several other rare disorders of aromatic amino-acid metabolism that can have significant health consequences.
- Homocystinuria: This is a rare genetic disorder that affects the metabolism of methionine, an essential amino acid. Homocystinuria can result from defects in several enzymes involved in methionine metabolism, including the enzyme that converts homocysteine to cystathionine. Symptoms of homocystinuria can include intellectual disability, skeletal abnormalities, and an increased risk of blood clots.
- Alkaptonuria: This is a rare genetic disorder that affects the metabolism of phenylalanine and tyrosine. People with alkaptonuria lack an enzyme called homogentisate oxidase, which leads to the accumulation of homogentisic acid in the body. This can cause a variety of health problems, including joint pain and stiffness, dark urine, and a buildup of pigment in the skin and eyes.
- Hawkinsinuria: This is another rare genetic disorder that affects the metabolism of tyrosine. People with Hawkinsinuria lack an enzyme called 4-hydroxyphenylpyruvate dioxygenase, which leads to the accumulation of a substance called hawkinsin in the body. This can cause a variety of health problems, including intellectual disability and seizures.
Diagnosis of these rare disorders of aromatic amino-acid metabolism typically involves a combination of clinical evaluation, biochemical testing, and genetic testing. Treatment may involve a combination of dietary changes, medications, and other supportive measures.
While these disorders are rare, they can have significant health consequences for those affected. Early detection and treatment are essential for improving outcomes and preventing complications.