Hartnup's disease
ICD-10 E72.02 is a billable code used to indicate a diagnosis of hartnup's disease.
Hartnup's disease is a rare genetic metabolic disorder characterized by the impaired absorption of certain amino acids, particularly neutral amino acids such as tryptophan, due to a defect in the SLC6A19 gene. This condition leads to a deficiency in the transport of these amino acids in the intestines and kidneys, resulting in their excessive excretion in urine. Clinically, patients may present with symptoms such as skin rashes, neurological manifestations, and psychiatric symptoms, particularly during periods of stress or illness. The disease is often associated with a deficiency of niacin (vitamin B3), which can lead to pellagra-like symptoms. Diagnosis is typically confirmed through urine amino acid analysis, which shows elevated levels of neutral amino acids. Management includes dietary modifications to ensure adequate intake of essential amino acids and, in some cases, supplementation with niacin. Early recognition and intervention are crucial to prevent complications and improve quality of life.
Genetic test results, family history, and clinical findings.
Patients presenting with unexplained neurological symptoms or skin rashes.
Ensure that genetic counseling is documented.
Dietary assessments and nutritional interventions.
Management of dietary intake in patients with Hartnup's disease.
Document any changes in dietary plans and patient adherence.
Used when confirming diagnosis of Hartnup's disease.
Document the reason for testing and results.
Genetic counseling should be included in the documentation.
Common symptoms include skin rashes, neurological issues, and psychiatric symptoms, particularly during stress or illness.
