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102 Possible Causes for Attention Deficit Disorder - in Those Who Stop Treatment, Mutation in the Phenylalanine Hydroxylase Gene

  • Classical Phenylketonuria

    […] in the phenylalanine hydroxylase (PAH) gene.[springerplus.springeropen.com] Abstract RFLP haplotypes and common mutations in the phenylalanine hydroxylase gene have been studied in a group of 29 Bulgarian PKU families.[ncbi.nlm.nih.gov] Phenylalanine tolerance increases The majority of the more than 400 different mutations in the phenylalanine hydroxylase gene lead to changes in the resulting protein that[gesundheitsindustrie-bw.de]

  • Phenylketonuria

    mutations in the phenylalanine hydroxylase gene consistent with classic phenylketonuria.[ncbi.nlm.nih.gov] There was no correlation between autism and mutations affecting the phenylalanine hydroxylase gene, but the age of diet onset was the determining factor in autistic symptoms[ncbi.nlm.nih.gov] BACKGROUND: This study aims to investigate the spectrum and frequency of phenylalanine hydroxylase (PAH) gene mutations and the power to prenatally diagnose phenylketonuria[ncbi.nlm.nih.gov]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment
  • Hyperphenylalaninemia

    These results demonstrate that there are multiple and distinct mutations in the phenylalanine hydroxylase gene, with different levels of severity, and that various combinations[ncbi.nlm.nih.gov] Phenylketonuria (PKU) is caused by mutations in the phenylalanine hydroxylase gene (PAH), while mutations in genes encoding the two enzymes (dihydropteridine reductase, DHPR[ncbi.nlm.nih.gov] […] in the phenylalanine hydroxylase PAH gene on chromosome 12, and both are considered to be inherited in an autosomal recessive manner.[snpedia.com]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment
  • Asthma

    This absence is almost invariably the result of mutations in the phenylalanine hydroxylase gene, on chromosome 12q24.[doi.org] Two factors concurrently contribute to this accumulation: the amount of phenylalanine in the diet; and the absence of the active metabolising enzyme, phenylalanine hydroxylase[doi.org]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment
  • Tetrahydrobiopterin Deficiency

    BACKGROUND: Hyperphenylalaninemia (HPA) can be classified into phenylketonuria (PKU) which is caused by mutations in the phenylalanine hydroxylase (PAH) gene, and BH4 deficiency[ncbi.nlm.nih.gov] Mental retardation associated with hyperphenylalaninemia induced by mutations of the phenylalanine hydroxylase gene (EC 1.14.16.1) (defined as phenylketonuria) has been eradicated[ajnr.org] M., Shi Y., Wang P., Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China.[biopku.org]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment
  • Phenylalanine Increased

    phenylalanine hydroxylase gene should definitely remain on dietary therapy for life.[aafp.org] Mutations in the PAH gene cause phenylketonuria . The PAH gene provides instructions for making an enzyme called phenylalanine hydroxylase .[ghr.nlm.nih.gov] The disease is caused by some of more than 500 mutations of the gene that codes for phenylalanine hydroxylase.[medical-dictionary.thefreedictionary.com]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment
  • 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

    Mental retardation associated with hyperphenylalaninemia induced by mutations of the phenylalanine hydroxylase gene (EC 1.14.16.1) (defined as phenylketonuria) has been eradicated[ajnr.org] Lin Wang, Xiaobin Wang, Bin He, Na Cai, Wei Li, Chao Lou, Shuwen Xin, Qiuhua Wu, Wenwen Yu and Rong Qiang, Mutation analysis of the phenylalanine hydroxylase gene and prenatal[doi.org] In most cases, hyperphenylalaninemia results from a lack of phenylalanine hydroxylase (EC1.14.16.1) caused by mutations in the phenylalanine hydroxylase gene.[google.sr]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment
  • Coronary Cataract

    PHENYLKETONURIA (PKU) The association of PKU with cataract is controversial. 29 PKU is an AR disorder caused by mutations in the gene encoding for phenylalanine hydroxylase[entokey.com]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment
  • Panayiotopoulos Syndrome

    hydroxylase gene in Italian hyperphenylalaninemics EXPERIMENTAL AND MOLECULAR MEDICINE ;42(2):81-86. 47 2009 Expanding CEP290 Mutational Spectrum in Ciliopathies AMERICAN[ricerca.cbim.it] […] and Females AMERICAN JOURNAL OF HUMAN GENETICS ;85:394–400. 45 2009 Drug allergy and hypersensitivity: still a hot topic ALLERGY ;64:179–182. 46 2010 Exon deletions of the phenylalanine[ricerca.cbim.it]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment
  • X-linked Distal Spinal Muscular Atrophy Type 3

    ) GENE: PAH (phenylalanine hydroxylase) CHROMOSOMAL LOCATION: 12q32.2 MODE OF INHERITANCE: autosomal recessive Phenylketonuria (PKU) is caused by a deficiency in phenyalanine[chginc.org] SLC26A4 SEQUENCING – 5 COMMON MUTATIONS CPT CODE: 81402 SLC26A4 SEQUENCING CPT CODE: 81406 SLC26A4 SEQUENCING – KNOWN MUTATION CPT CODE: 81403 Go to top PHENYLKETONURIA (PKU[chginc.org]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment

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