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673 Possible Causes for Eczema, Mental Retardation, Phenylketonuria

  • Phenylketonuria

    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] Abstract Well-established dietary protocols have prevented mental retardation for infants born with phenylketonuria (PKU).[ncbi.nlm.nih.gov]

  • Classical Phenylketonuria

    ), 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] The high prevalence of PKU in the mentally retarded population in Iran could be indicative of a high incidence of the disease among Iranian neonates.[ncbi.nlm.nih.gov]

  • 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[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] Clinically, there is a marked mental retardation and complex basal ganglion symptoms.[ncbi.nlm.nih.gov]

  • 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.[nejm.org] PhenylketonuriaPhenylalanine hydroxylase (or cofactor tetrahydrobiopterin)Phenylalanine/phenylketones in urineNoneARMental retardation/growth retardation/seizures/fair skin/eczema[memorize.com] Symptoms can include delayed mental or social skills, seizures or tremors, hyperactivity, skin rashes (eczema), small head size, and a musty odor in the child's breath, skin[whattoexpect.com]

  • Homocystinuria

    In phenylketonuria, the L-arginine/NO pathway seems not be altered.[ncbi.nlm.nih.gov] Cutaneous signs of homocystinuria include: Hypopigmentation due to inhibition of tyrosinase Fair and thin hair Thin, translucent skin Hyperhidrosis Dry skin with tendency to eczema[dermnetnz.org] Classic homocystinuria presents initially with ectopia lentis, mental retardation, seizures and marfanoid features.[symptoma.com]

  • Propionic Acidemia

    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] Early OLT may limit the development of mental retardation and/or cardiomyopathy.[ncbi.nlm.nih.gov]

  • 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.[books.google.ro] The urinary histamine levels of patients with eczema-like dermatitis were twice that of those without dermatitis.[ncbi.nlm.nih.gov] The histidinemia appears to be unrelated to the mental retardation or the encephalopathy in this family.[ncbi.nlm.nih.gov]

  • Methylmalonic Acidemia

    All 50 states screen newborns for phenylketonuria (PKU). Most states also test newborns for galactosemia.[webmd.com] The clinical signs are recurrent episodes of ketoacidosis and bouts of vomiting, dehydration and mental retardation.[ncbi.nlm.nih.gov] Methylmalonic acidemia is an inborn error of metabolism known to be a cause of ketoacidosis and mental retardation.[ncbi.nlm.nih.gov]

  • Phenylalanine Increased

    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] Untreated individuals have very fair hair, eczema, a mousy odor of the urine and skin, and progressive mental retardation.[medical-dictionary.thefreedictionary.com]

  • Congenital Toxoplasmosis

    Blood collected on phenylketonuria (PKU) cards from 40,978 consecutively born children were investigated for antitoxoplasma antibodies.[ncbi.nlm.nih.gov] This is rare but potentially has serious consequences such as malformation, mental retardation, deafness and blindness of the infected infant, intrauterine death or stillbirth[cochrane.org] Long term disability can occur with mental retardation and blindness. Overall mortality can be as high as 12% 10. Promoted articles (advertising)[radiopaedia.org]

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