Consultation on the Cost of Phenylketonuria Treatment

How can infants be diagnosed with Phenylketonuria?

A child of two and a half years old, with delayed development, suspected of having methylmalonic acidemia.

Phenylketonuria is a rare genetic disorder where the body lacks the enzyme needed for the breakdown of phenylalanine in the metabolic pathway. This leads to the accumulation of phenylalanine and its ketones in the body, which are then excreted in urine, causing a series of symptoms. The disease has a distinctive smell of urine, hence also known as ‘urine odor disease.’ Every newborn should undergo a urine test for early diagnosis and treatment. Treatment primarily involves a low-phenylalanine diet and targeted treatment after confirmation. Parents and caregivers also need to learn how to manage this special diet and monitor the patient’s progress.

Questions and expert responses regarding the treatment of Gaucher disease

Neurogenic damage is a progressive neurological disorder with no known effective medication. However, clinical treatment can improve the condition and extend the lifespan of patients.