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1,715 Possible Causes for Phenylketonuria

  • Classical Phenylketonuria

    ), PHENYLKETONURIA, PKU, PKU - Phenylketonuria, phenylalaninemia, phenylketonuria (diagnosis), phenylketonuria, Phenylalaninemia, Phenylketouria, Phenylketonuria - pku, Phenylketonurias[] The PAH gene, phenylketonuria, and a paradigm shift. Hum Mutat. 2007 Sep;28(9):831-45. Review. What you need to know about ... phenylketonuria.[] People with PKU can enjoy all the pleasures of life and show little symptoms as long as they abide by their strict diet. - Types of Phenylketonuria Edit Maternal Phenylketonuria[]

  • Maple Syrup Urine Disease

    Herein, we report two patients with two co-existent IEMs: a girl affected by classic phenylketonuria (PKU) and maple syrup urine disease (MSUD) and a male patient affected[] METHODS: A total of 370 dried blood spots (DBS) from healthy neonates, 44 DBS specimens from phenylketonuria neonates, and 38 DBS samples from 10 MSUD patients were retrospectively[] All 50 states screen newborns for phenylketonuria (PKU). Most states also test newborns for galactosemia.[]

  • Histidinemia

    Of 34.5 million babies tested for phenylketonuria, 3000 cases have been diagnosed in time to prevent mental retardation by means of dietary therapy.[] Abstract As a result of mass testing for phenylketonuria in infants and retarded children with the urinary ferric chloride test, a new entity, histidinemia, was described[] […] importance of neonatal screening is especially obvious in metabolic diseases that are not too rare and for which effective treatment depends upon an early diagnosis, such as phenylketonuria[]

  • Hyperphenylalaninemia

    There were four cases (40%) with 6-pyruvoyl-tetrahydropterin synthase deficiency, three with GTP cyclohydrolase I - autosomal recessive form deficiency, and three with dihydropteridine[] TY - JOUR T1 - 6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia.[] Due to a positive family history prenatal diagnosis for phenylketonuria was performed, revealing heterozygosity for classic phenylketonuria.[]

  • Tetrahydrobiopterin Deficiency

    pyruvoyl tetrahydropterin synthase deficiency or PTPS deficiency.[] BACKGROUND: Hyperphenylalaninemia (HPA) can be classified into phenylketonuria (PKU) which is caused by mutations in the phenylalanine hydroxylase (PAH) gene, and BH4 deficiency[] Diagnosis and treatment of 6-pyruvoyl-tetrahydropterin synthase deficiency. Brain Dev 2000 ; 22[suppl 1] : S118 –S121 Schmidt H, Ullrich K, Korinthenberg R, Peters PE.[]

  • Phenylketonuria

    The extent of the deficiency depends on the enzyme activity, complete deficiency causes phenylketonuria, with residual enzyme activity causing mild phenylketonuria.[] […] phenyl ketone New Latin -uria Learn More about phenylketonuria Resources for phenylketonuria Statistics for phenylketonuria Last Updated 23 Apr 2019 Look-up Popularity More[] Pronunciation phenylketonuria /ˌfiːnʌɪlˌkiːtə(ʊ)ˈnjʊərɪə/ /ˌfɛnɪlˌkiːtə(ʊ)ˈnjʊərɪə[]

  • 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

    El-Hattab and Majid Alfadhel, 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects, Pediatric Neurology, 10.1016/j.pediatrneurol.2019.02.008[] TY - JOUR T1 - 6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia.[] European Journal of Pediatrics 148(5): 450-452, 1989 6-pyruvoyl tetrahydropterin synthase deficiency: a case report .[]

  • Phenylalanine Increased

    Editorial (1979) The growing problems of phenylketonuria. Lancet II: 1381–1383 Google Scholar 14.[] The PAH gene, phenylketonuria, and a paradigm shift. Hum Mutat. 2007 Sep;28(9):831-45. Review. What you need to know about ... phenylketonuria.[] External links [ edit ] Phenylketonuria at Curlie[]

  • Velocardiofacial Syndrome

    Velocardiofacial syndrome is classically characterized by clefting of the secondary palate, cardiac defects, learning disabilities, and facial dysmorphism. Knowledge of this syndrome is of significant importance to otolaryngologists because a failure to recognize it prior to head and neck surgery can result in serious[…][]

  • Disorder of Amino Acid Metabolism

    GUTHRIE'S 1 2 3 recently introduced bacterial inhibition assay provides a simple and practical mass screening method for phenylketonuria.[] Phenylketonuria (PKU) is an inherited metabolic disorder. Individuals having phenylketonuria do not have the ability to further metabolize phenylalanine.[] Medical foods made from glycomacropeptide have been used successfully for the management of phenylketonuria and tyrosinemia.[]

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