BIOMAT Database Logo BIOMAT Database Logo

[Use of modified Ayling's method for detection of homozygotes and heterozygotes for phenylketonuria gene]. 1982

E E Safronova, and N A Rybakova, and G A Annenkov

Activity of phenylalanine hydroxylase from human leukocytes was shown to depend on concentration of phenylalanine and pteridine cofactor; optimal concentrations of the substances were estimated. Using this optimized procedure activity of phenylalanine hydroxylase was studied in leukocytes of homo- and heterozygotes by the phenylketonuria gene as well as in the cells of donors. The mean values of the enzymatic activity were distinctly different in the groups of homo-, heterozygote-bearing patients and in healthy persons, although a slight overlapping of the patterns was observed between the groups. Presence of "atypical" forms of phenylketonuria appears to be responsible for this overlapping. The modified procedure for estimation of phenylalanine hydroxylase activity in leukocytes might be used for differential diagnostics of phenylketonuria.

UI MeSH Term Description Entries
D007962 Leukocytes White blood cells. These include granular leukocytes (BASOPHILS; EOSINOPHILS; and NEUTROPHILS) as well as non-granular leukocytes (LYMPHOCYTES and MONOCYTES). Blood Cells, White,Blood Corpuscles, White,White Blood Cells,White Blood Corpuscles,Blood Cell, White,Blood Corpuscle, White,Corpuscle, White Blood,Corpuscles, White Blood,Leukocyte,White Blood Cell,White Blood Corpuscle
D008297 Male Males
D010651 Phenylalanine Hydroxylase An enzyme of the oxidoreductase class that catalyzes the formation of L-TYROSINE, dihydrobiopterin, and water from L-PHENYLALANINE, tetrahydrobiopterin, and oxygen. Deficiency of this enzyme may cause PHENYLKETONURIAS and PHENYLKETONURIA, MATERNAL. EC 1.14.16.1. Phenylalanine 4-Hydroxylase,Phenylalanine 4-Monooxygenase,4-Hydroxylase, Phenylalanine,4-Monooxygenase, Phenylalanine,Hydroxylase, Phenylalanine,Phenylalanine 4 Hydroxylase,Phenylalanine 4 Monooxygenase
D010661 Phenylketonurias A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952). Biopterin Deficiency,Dihydropteridine Reductase Deficiency Disease,Hyperphenylalaninemia, Non-Phenylketonuric,Phenylalanine Hydroxylase Deficiency Disease,BH4 Deficiency,DHPR Deficiency,Deficiency Disease, Dihydropteridine Reductase,Deficiency Disease, Phenylalanine Hydroxylase,Deficiency Disease, Phenylalanine Hydroxylase, Severe,Dihydropteridine Reductase Deficiency,Folling Disease,Folling's Disease,HPABH4C,Hyperphenylalaninaemia,Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism,Hyperphenylalaninemia, BH4-Deficient, C,Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To DHPR Deficiency,Non-Phenylketonuric Hyperphenylalaninemia,Oligophrenia Phenylpyruvica,PAH Deficiency,PKU, Atypical,Phenylalanine Hydroxylase Deficiency,Phenylalanine Hydroxylase Deficiency Disease, Severe,Phenylketonuria,Phenylketonuria I,Phenylketonuria II,Phenylketonuria Type 2,Phenylketonuria, Atypical,Phenylketonuria, Classical,QDPR Deficiency,Quinoid Dihydropteridine Reductase Deficiency,Tetrahydrobiopterin Deficiency,Atypical PKU,Atypical Phenylketonuria,Biopterin Deficiencies,Classical Phenylketonuria,Deficiency, BH4,Deficiency, Biopterin,Deficiency, DHPR,Deficiency, Dihydropteridine Reductase,Deficiency, PAH,Deficiency, Phenylalanine Hydroxylase,Deficiency, QDPR,Deficiency, Tetrahydrobiopterin,Disease, Folling,Disease, Folling's,Hyperphenylalaninemia, Non Phenylketonuric,Non Phenylketonuric Hyperphenylalaninemia,Non-Phenylketonuric Hyperphenylalaninemias
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D005260 Female Females
D006579 Heterozygote An individual having different alleles at one or more loci regarding a specific character. Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006580 Genetic Carrier Screening Identification of individuals who are heterozygous at a GENETIC LOCUS for a recessive PHENOTYPE. Carriers, Genetic, Detection,Genetic Carriers, Detection,Heterozygote Detection,Carrier Detection, Genetic,Detection, Genetic Carrier,Genetic Carrier Detection,Heterozygote Screening,Carrier Screening, Genetic,Detection, Heterozygote,Screening, Genetic Carrier,Screening, Heterozygote,Screenings, Genetic Carrier
D006720 Homozygote An individual in which both alleles at a given locus are identical. Homozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

Related Publications

E E Safronova, and N A Rybakova, and G A Annenkov
Detection of heterozygotes for phenylketonuria.
July 1960, Clinica chimica acta; international journal of clinical chemistry,
E E Safronova, and N A Rybakova, and G A Annenkov
Simple technique for detection of cystic fibrosis heterozygotes and homozygotes.
December 1976, Pediatric research,
E E Safronova, and N A Rybakova, and G A Annenkov
Detection of cystic fibrosis homozygotes and heterozygotes with plasma.
October 1979, Lancet (London, England),
E E Safronova, and N A Rybakova, and G A Annenkov
Detection of cystic fibrosis homozygotes and heterozygotes with plasma.
September 1979, Lancet (London, England),
E E Safronova, and N A Rybakova, and G A Annenkov
Detection of homozygotes and heterozygotes with methylenetetrahydrofolate reductase deficiency.
August 1977, The Journal of laboratory and clinical medicine,
E E Safronova, and N A Rybakova, and G A Annenkov
[Detection of heterozygotes of typical phenylketonuria].
April 1972, Archives francaises de pediatrie,
E E Safronova, and N A Rybakova, and G A Annenkov
Fluorimetric assay for prenatal detection of Hurler and Scheie homozygotes or heterozygotes.
January 1978, Lancet (London, England),
E E Safronova, and N A Rybakova, and G A Annenkov
Detection of cystic fibrosis homozygotes and heterozygotes by serum isoelectrofocusing.
January 1981, Human genetics,
E E Safronova, and N A Rybakova, and G A Annenkov
Intracellular phenylalanine and tyrosine concentration in homozygotes and heterozygotes for phenylketonuria (PKU) and hyperphenylalaninemia compared with normals.
January 1982, Human genetics,
E E Safronova, and N A Rybakova, and G A Annenkov
Problems in the biochemical detection of heterozygotes for phenylketonuria.
March 1972, Clinical biochemistry,
Copied contents to your clipboard!