hyperphenylalaninemia

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• hyperphenylalaninemia — The presence of abnormally high blood levels of phenylalanine, which may or may not be associated with elevated tyrosine levels, in newborn infants (premature and full term), associated with the heterozygous state of phenylketonuria, maternal… …   Medical dictionary

• non-PKU hyperphenylalaninemia — an autosomal recessive condition caused by mutation in the PAH (locus: 12q24.1), which encodes phenylalanine hydroxylase; the resulting enzyme defect does not abolish enzyme activity; enough activity remains to keep plasma phenylalanine… …   Medical dictionary

• PTS (gene) — 6 pyruvoyltetrahydropterin synthase, also known as PTS, is a human gene.cite web | title = Entrez Gene: PTS 6 pyruvoyltetrahydropterin synthase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=5805|… …   Wikipedia

• PCBD1 — Pterin 4 alpha carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha PDB rendering based on 1dch …   Wikipedia

• Phenylketonuria — PKU redirects here. For other uses, see PKU (disambiguation). Phenylketonuria Classification and external resources ICD 10 E70.0 ICD 9 …   Wikipedia

• List of diseases (H) — A list of diseases in the English wikipedia.DiseasesTOC HaHag Ham* Hageman factor deficiency * Hagemoser Weinstein Bresnick syndrome * Hailey Hailey disease * Hair defect with photosensitivity and mental retardation * Hairy cell leukemia * Hairy… …   Wikipedia

• Guthrie test — The Guthrie test, also known as the Guthrie bacterial inhibition assay, is a medical test performed on newborn infants to detect phenylketonuria, an inborn error of amino acid metabolism. The test has been widely used throughout North America and …   Wikipedia

• phenylketonuria — phenylketonuric, adj. /fen l kee toh noor ee euh, nyoor , feen /, n. Pathol. an inherited disease due to faulty metabolism of phenylalanine, characterized by phenylketones in the urine and usually first noted by signs of mental retardation in… …   Universalium

• phenylketonuria — Autosomal recessively inherited inborn error of metabolism of phenylalanine characterized by deficiency of 1) phenylalanine hydroxylase [MIM*261600] caused by mutation in the phenylalanine hydroxylase gene ( …   Medical dictionary

• Phenylalanine — Phe redirects here. For other uses, see Phe (disambiguation). Phenylalanine …   Wikipedia

• Список наследственных заболеваний — Список генетических заболеваний Основные статьи: наследственные заболевания, Наследственные болезни обмена веществ, Ферментопатия. В большинстве случаев приведен также код, указывающий на тип мутации и связанные с ней хромосомы. См. также система …   Википедия