Including results for phenylketonuria
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Phenylketonuria
Also called: PKU
A birth defect that causes an amino acid called phenylalanine to build up in the body.
- Chronic: can last for years or be lifelong
- Treatment can help, but this condition can't be cured
- Requires a medical diagnosis
- Lab tests or imaging always required
Untreated PKU can lead to brain damage, intellectual disabilities, behavioral symptoms, or seizures.
Very rare: Fewer than 20,000 US cases per year
Consult a doctor for medical advice
Sources: Mayo Clinic and others. Learn more
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A severe form of phenylketonuria (PKU) due to phenylalanine hydroxylase deficiency, an inborn error of amino acid metabolism, characterized in untreated ...
Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. Untreated PKU can lead to ...
Phenylketonuria (PKU) is an inborn error of metabolism (IEM) most often caused by missense mutations in the gene encoding phenylalanine hydroxylase (PAH) ...
May 20, 2021 · Phenylketonuria (PKU; also known as phenylalanine hydroxylase (PAH) deficiency) is an autosomal recessive disorder of phenylalanine metabolism, ...
A rare inborn error of amino acid metabolism characterized by elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not ...
Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism resulting from a deficiency of phenylalanine hydroxylase (PAH; 612349), ...
La fenilchetonuria (PKU) è una rara malattia metabolica congenita caratterizzata da un accumulo tossico dell'aminoacido essenziale denominato fenilalanina.
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Sep 14, 2011 · Phenylketonuria. Phenylalanine hydroxylase deficiency that requires treatment. 1.2 OMIM# of the disease. 261600. 1.3 Name of the analysed genes ...
Phenylketonuria (PKU) is an inborn error of metabolism resulting from abnormal metabolism of phenylalanine. If untreated, patients can develop central nervous ...