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68 Possible Causes for Eczema, Phenylalanine Increased, Phenylketonuria

  • Phenylketonuria

    Increase in the excretion of phenylalanine metabolites was found in patients who were considered to have good blood phenylalanine control.[doi.org] The extent of the deficiency depends on the enzyme activity, complete deficiency causes phenylketonuria, with residual enzyme activity causing mild phenylketonuria.[symptoma.com] Clinical features in the untreated patient include intellectual disability, defects in executive functioning, seizures, and eczema.[bestpractice.bmj.com]

  • Hyperphenylalaninemia

    Furthermore, we demonstrate that phenylalanine tolerance increases significantly by trimester in women with classical and variant hyperphenylalaninemia.[ncbi.nlm.nih.gov] There were four cases (40%) with 6-pyruvoyl-tetrahydropterin synthase deficiency, three with GTP cyclohydrolase I - autosomal recessive form deficiency, and three with dihydropteridine[ncbi.nlm.nih.gov] PKU-like symptoms include eczema and fair hair and skin coloring. Causes Genetic defects in phenylalanine hydroxylase cause most cases of hyperphenylalaninemia.[emedicine.medscape.com]

  • Classical Phenylketonuria

    The increase of phenylalanine (Phe) plasma levels to about 1500 mumol/l (25 mg/dl) after relaxing the diet was not associated with any significant decline of intellectual[ncbi.nlm.nih.gov] ), PHENYLKETONURIA, PKU, PKU - Phenylketonuria, phenylalaninemia, phenylketonuria (diagnosis), phenylketonuria, Phenylalaninemia, Phenylketouria, Phenylketonuria - pku, Phenylketonurias[fpnotebook.com] Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; seizures; skin hypopigmentation; eczema[icd9data.com]

  • Phenylalanine Increased

    View Full Version : combination of Straterra and DL-phenylalanine- increased adrenaline?[bluelight.org] Editorial (1979) The growing problems of phenylketonuria. Lancet II: 1381–1383 Google Scholar 14.[link.springer.com] Symptoms can include microcephaly, epilepsy, mental retardation, behavior problems, eczema, pigmentation lighter than the family constellation, decreased myelin formation,[invitae.com]

  • Tetrahydrobiopterin Deficiency

    Tetrahydrobiopterin deficiency (THBD, BH4D), is a rare metabolic disorder that increases the blood levels of phenylalanine.[en.wikipedia.org] pyruvoyl tetrahydropterin synthase deficiency or PTPS deficiency.[symptoma.com] Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; seizures; skin hypopigmentation; eczema[icd9data.com]

  • Disorder of Amino Acid Metabolism

    , cardiac disorders Inability to produce an enzyme that hydrolyzes Phenylalanine to tyrosine Causes OVERFLOW phenylalanine and the production of phenylpyruvate (a ketone)[quizlet.com] GUTHRIE'S 1 2 3 recently introduced bacterial inhibition assay provides a simple and practical mass screening method for phenylketonuria.[nejm.org] PhenylketonuriaPhenylalanine hydroxylase (or cofactor tetrahydrobiopterin)Phenylalanine/phenylketones in urineNoneARMental retardation/growth retardation/seizures/fair skin/eczema[memorize.com]

  • Toxoplasmosis

    Tests demonstrated that expressed proteins were able to catabolize both tyrosine and phenylalanine, with a two-to-threefold preference for tyrosine.[oadoi.org] […] amniocentesis procedures) and overall costs. 11, 12 However, proponents of universal screening argue that screening occurs for even less common diseases, such as neonatal phenylketonuria[glowm.com] Neonatal screenings also exist in the United States for several inborn errors of metabolism, even though the numbers of affected infants are very small (annual incidence of phenylketonuria[pediatrics.aappublications.org]

  • Vitiligo

    Oral vitamins and supplements have also gained increased interest in the treatment of vitiligo owing to their antioxidant properties.[dx.doi.org] Read More on This Topic skin disease: Pigments …absence of melanocytes, as in vitiligo; reduced or absent synthesis of melanin by melanocytes, as in albinism and phenylketonuria[britannica.com] This may be a type of eczema or an inflammatory reaction following mild eczema. Leprosy , especially the tuberculoid variety. Halo naevus .[patient.info]

  • Biotinidase Deficiency

    COMMENT: The use of quantitative phenylalanine measurements increases the ability to detect PKU earlier in the baby’s life than previously used qualitative assays.[slh.wisc.edu] Ten thousand newborn samples from the National Screening Program for the Detection of Phenylketonuria were evaluated.[ncbi.nlm.nih.gov] In addition, sparse scalp hair and chronic intractable eczema has been described in this syndrome.[ncbi.nlm.nih.gov]

  • Propionic Acidemia

    […] hydroxylase (PAH)  increased concentrations of Phe in the blood and other tissues • Pathway Phenylalanine   A  Tyrosine   B   Dopamine A Phenylalanine hydroxylase[slidex.tips] She is the co-author of “Penny the Penguin has PKU” and completed research addressing the impact of exercise on plasma phenylalanine concentrations in adolescent boys with phenylketonuria[books.google.ro] PKU)*PhenylalanineTyrosineHydroxylasePhenylalaninePhenyl ethylamine Phenyl pyruvic acid Phenylketonuria PKU*Hyperactivity, athetosis, vomiting.Blond.Seborric dermatitis or eczema[vdocuments.site]

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