Tag: Inherited metabolic disorder

According to the National Institute of Child Health and Human Development, if phenylketonuria (PKU) is not treated, severe intellectual and developmental disabilities can occur. This article explains what happens if you don't follow a PKU diet and the critical health implications of elevated phenylalanine levels.

According to research from MedlinePlus Genetics, the accumulation of high levels of the amino acid phenylalanine is often linked to the inherited disorder phenylketonuria (PKU). This condition primarily manifests in those with a genetic inability to process phenylalanine effectively, leading to potentially toxic levels that can significantly harm the brain and nervous system.

Affecting approximately 1 in 35,000 newborns, urea cycle disorders (UCDs) are one example of a group of inherited metabolic conditions responsible for what is colloquially known as when someone can't eat protein. There is no single universal term, as this difficulty stems from several rare genetic diseases that impair the body's ability to process specific amino acids, the building blocks of protein.

Affecting approximately 1 in 30,000 people, a genetic defect is what is the defect in Hartnup disease, a rare metabolic disorder that hinders the body's ability to absorb neutral amino acids. This defect can lead to nutritional deficiencies and a range of clinical symptoms if not managed with a specialized nutrition diet.

Phenylketonuria (PKU) is a rare genetic metabolic disorder affecting approximately 1 in 16,000 babies born in North America. People with this condition must severely restrict their intake of natural protein to prevent brain damage, which raises the question: how do people with PKU survive without protein?

Phenylketonuria (PKU) is a rare inherited metabolic disorder, affecting about 1 in 10,000 to 15,000 newborns in the United States. For children with this condition, adopting a highly specialized *nutrition diet* is the primary and most effective treatment to prevent severe neurological complications.

Affecting about 1 in 15,000 newborns in the U.S., a rare genetic condition known as Phenylketonuria (PKU) is a key example of the disorder where you can't have protein (or at least, severely restricted protein). While not a complete protein ban, these metabolic disorders require strict, lifelong dietary management to prevent a toxic buildup of amino acids, the building blocks of protein.