Disorders of tryptophan metabolism are caused by genetic mutations that affect the enzymes that are involved in the metabolism of tryptophan. These mutations can lead to a buildup of toxic metabolites, which can cause a variety of symptoms.
Diagnosis of disorders of tryptophan metabolism typically involves a combination of clinical history, physical examination, laboratory tests (such as urine and blood tests) and genetic testing.
Differential diagnosis of disorders of tryptophan metabolism may include other genetic conditions, metabolic disorders, and nutritional deficiencies.
Treatment of disorders of tryptophan metabolism typically involves dietary modifications, medications, and/or supplements depending on the specific disorder.
Prognosis of disorders of tryptophan metabolism depends on the type and severity of the disorder and the individual’s response to treatment. In some cases, the disorder may be managed and symptoms can be alleviated; in others, the condition may be progressive and may lead to complications.