Symptoms of phenylketonuria?

Phenylketonuria (PKU) is a genetic disorder that can cause severe brain damage if left untreated. Many countries test newborns for PKU to ensure early intervention with a low-protein diet. Without testing, symptoms such as diarrhea, vomiting, light sensitivity, fussiness, and a musty odor can emerge. If left untreated, PKU can lead to developmental delays, self-injurious […]

What’s Phenylketonuria?

Phenylketonuria (PKU) is an inherited disease that affects the body’s ability to process phenylalanine. It can cause serious complications, but can be treated with a phenylalanine-free diet. Newborns are tested for PKU in many countries. PKU patients must follow a strict diet for life. Financial aid may be available to low-income families. Phenylketonuria (PKU) is […]

Causes of phenylketonuria?

Phenylketonuria (PKU) is an inherited disease caused by mutations in the PAH gene, which prevents the body from breaking down phenylalanine. The severity of the condition depends on the level of enzyme activity, with classic PKU being the most severe. The disorder is autosomal recessive and carriers may not show symptoms. Phenylketonuria (PKU) is an […]

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