Homocystinuria
ICD-10 E72.11 is a billable code used to indicate a diagnosis of homocystinuria.
Homocystinuria is a rare inherited metabolic disorder characterized by the accumulation of homocysteine in the body due to a deficiency in one of the enzymes involved in its metabolism, primarily cystathionine beta-synthase (CBS). This condition is classified as an amino acid disorder and is often associated with a deficiency in vitamin B6, vitamin B12, or folate. Patients with homocystinuria may present with a variety of symptoms, including developmental delays, intellectual disability, skeletal abnormalities, and an increased risk of thromboembolic events. The disorder can lead to serious complications such as cardiovascular disease, osteoporosis, and lens dislocation. Diagnosis is typically confirmed through biochemical testing that measures homocysteine levels in the blood and urine, alongside genetic testing to identify mutations in the CBS gene. Management of homocystinuria often involves dietary modifications to restrict methionine intake, supplementation with vitamins, and in some cases, the use of medications such as betaine to lower homocysteine levels. Early diagnosis and intervention are crucial to prevent long-term complications.
Detailed family history and genetic test results must be documented.
Genetic counseling for families with a history of homocystinuria.
Ensure accurate coding based on genetic findings and family history.
Dietary plans and nutritional assessments must be clearly outlined.
Management of dietary restrictions for patients with homocystinuria.
Document specific dietary modifications and patient compliance.
Used to confirm diagnosis of homocystinuria.
Document the reason for testing and results.
Genetic counseling may be necessary for family members.
Common symptoms include developmental delays, intellectual disability, skeletal abnormalities, and an increased risk of thromboembolic events.
Diagnosis is confirmed through biochemical testing that measures homocysteine levels in the blood and urine, alongside genetic testing.
Management typically involves dietary modifications to restrict methionine intake, vitamin supplementation, and possibly medications to lower homocysteine levels.
