Monitoring
Depending on the severity of disease progression at diagnosis, the patient may require minor follow-up or assessment by multiple specialists. If diagnosed early, the patient's nutritional status should be monitored on a regular basis to ensure adequate growth and development.[1][2] Regular weights and blood tests to monitor vitamin levels (i.e., vitamin E, A, D, and K) are recommended.[21] If vitamin D supplementation is given in the usual amount, there is no risk of toxicity, thus no need for monitoring.
If the disease has progressed, in addition to nutritional, laboratory, and weight assessments, referral to an ophthalmologist is recommended with periodical evaluation for evidence of visual impairment.[21] Additionally, a referral to a neurologist is advisable for assessment for disease progression exhibited in the peripheral nervous system. If severe neuropathy has developed, the patient may benefit from assessment by a gait disorder clinic and follow-up physiotherapy. A gastroenterologist referral may be warranted, depending on disease progression. Serum transaminases should be monitored yearly. Hepatic ultrasound should be monitored every 3 years for patients aged 10 years or older.[2]
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