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hyperphenylalaninemia การใช้

ประโยคมือถือ
  • PKU or hyperphenylalaninemia may also occur in persons without the PKU genotype.
  • In either case, dietary therapy corrects the hyperphenylalaninemia.
  • A deficiency of this enzyme leads to hyperphenylalaninemia.
  • Those who suffer from this form of hyperphenylalaninemia may have a deficiency of tyrosine ( which is created from phenylalanine by PAH ).
  • Phenylketonuria was discovered by the Norwegian physician Ivar Asbj鴕n F鴏ling in 1934 when he noticed hyperphenylalaninemia ( HPA ) was associated with intellectual disability.
  • Mutations in this gene are associated with malignant phenylketonuria ( PKU ) and hyperphenylalaninemia ( HPA ), as well as GTP cyclohydrolase I deficiency.
  • A dehyratase deficiency in the body can lead to a less severe condition of hyperphenylalaninemia, which involves an over presence of phenylalanine in the blood.
  • A rarer form of hyperphenylalaninemia occurs when the PAH enzyme is normal, and a defect is found in the biosynthesis or recycling of the cofactor tetrahydrobiopterin ( BH 4 ).
  • PAH deficiency causes a spectrum of disorders, including classic phenylketonuria ( PKU ) and mild hyperphenylalaninemia ( also known as " hyperphe " or " mild HPA " ), a less severe accumulation of phenylalanine.
  • A small subset of patients with hyperphenylalaninemia shows an appropriate reduction in plasma phenylalanine levels with dietary restriction of this amino acid; however, these patients still develop progressive neurologic symptoms and seizures and usually die within the first 2 years of life ( " malignant " hyperphenylalaninemia ).
  • A small subset of patients with hyperphenylalaninemia shows an appropriate reduction in plasma phenylalanine levels with dietary restriction of this amino acid; however, these patients still develop progressive neurologic symptoms and seizures and usually die within the first 2 years of life ( " malignant " hyperphenylalaninemia ).