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319 Possible Causes for Attention Deficit Disorder - in Those Who Stop Treatment, Mousy Odor, Mutation in the MECP2 Gene

  • Classical Phenylketonuria

    Each of the patients had a similar clinical presentation or phenotype with features including mental retardation, a "mousy" odor, and dermatitis.[medschool.lsuhsc.edu] odor from the breath, urine and skin.[news-medical.net] Initial symptoms may include: A musty or "mousy" odor of the body and urine Developmental delays in sitting, crawling, and standing Microcephaly If patients remain untreated[medicalhomeportal.org]

    Missing: Mutation in the MECP2 Gene
  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    Leuzzi V et. al. (2004) Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation. [ ] 8. None (2007) MECP2 mutations in males. [ ] 9.[moldiag.com] odor of urine 27.[slideshare.net] The MECP2 gene is mutated in Rett syndrome (RTT; 312750), a severe neurodevelopmental disorder that almost always occurs in females.[ncbi.nlm.nih.gov]

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

    Mutations in the MECP2 gene on chromosome Xq28 have been shown to be the cause of RTT.[ncbi.nlm.nih.gov] Mutation analysis of the MECP2 gene in the affected patient revealed a 423 C-- G substitution in exon 4, resulting in a new stop codon (Y141 X).[ncbi.nlm.nih.gov] It is caused mainly by mutations in the MECP2 gene. In this study, we reported mutations in the MECP2 gene in 7 Tunisian patients with classic Rett syndrome.[ncbi.nlm.nih.gov]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment Mousy Odor
  • Phenylketonuria

    Characteristic physical findings include: light hair, eye, and skin pigmentation an eczematous rash hyperactive behavior a musty or mousy odor (due to phenylacetic acid in[epilepsy.com] The presence of phenylacetate in the urine imparts a "mousy" odor.[themedicalbiochemistrypage.org]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment Mutation in the MECP2 Gene
  • Partial Monosomy 18q

    Rett syndrome is caused by mutations in the MeCP2 gene, also located on the X-chromosome.[supporting-cdkl5.co.uk] Mental deterioration, hypopigmentation (blond hair and blue eyes), mousy body odor (from phenylacetic acid in urine and sweat).[kumc.edu] However, apart from mutations in the CDKL5 gene, there are a number of other genetic mutations that are also associated with Rett-like features and these are outlined below[supporting-cdkl5.co.uk]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment
  • Spastic Ataxia with Congenital Miosis

    […] on chromosome Xq28.The MECP2 gene is mutated in Rett syndrome (RTT; 312750), a severe neurodevelopmental disorder that almost always occurs in females.[findzebra.com] Mental deterioration, hypopigmentation (blond hair and blue eyes), mousy body odor (from phenylacetic acid in urine and sweat).[kumc.edu] […] in the methyl-CpG-binding protein 2 gene (MECP2, 300005.0009).[findzebra.com]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment
  • Glutaric Aciduria Type 2

    Despite the identification of mutations in the X-linked gene methyl CpG-binding protein 2 (MECP2) in the majority of RTT patients, the aetiology remains unclear.[pliem.co.za] M usty, mousy Phenylketunuria Y east or malt Oast-house syndrome Smith-Strang diesease B urned sugar smell to urine Maple syrup urine disease Cheesy odor Isovaleric acidemia[mediconotebook.com] More recently mutations in two other genes, cyclin-dependent kinase like 5 (CDKL5) and Netrin G1, have been identified in patients with a clinical phenotype that strongly[pliem.co.za]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment
  • Autosomal Dominant Mental Retardation Type 21

    Mutation in gene MECP2 maps on chromosome Xq28.Rett syndrome it is frequently due to the deletion or insertion mutation in MECP2 gene.[intechopen.com] Mental deterioration, hypopigmentation (blond hair and blue eyes), mousy body odor (from phenylacetic acid in urine and sweat).[kumc.edu] The only gene involved in the rearrangement is MECP2 (methyl CpG binding protein 2).[cordis.europa.eu]

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

    ' odor—and treated by restricting dietary phenylalanine, results in tremors, seizures, eczema, hyperactivity, and hypopigmentation and IQ of 50; other hyperphenylalaninemia[medical-dictionary.thefreedictionary.com] Each of the patients had a similar clinical presentation or phenotype with features including mental retardation, a "mousy" odor, and dermatitis.[medschool.lsuhsc.edu] odor from the breath, urine and skin.[news-medical.net]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment Mutation in the MECP2 Gene
  • Tinea Favosa

    Favus is characterized by thick yellow crusts with suppuration, a honeycomb appearance, a distinct "mousy" odor, permanent scars, and alopecia.[medical-dictionary.thefreedictionary.com] A mousy odor typically is present.[emedicine.medscape.com] The scalp is characterized by an unpleasant “mousyodor. The parasitized hair will fall down causing a final alopecia ( 3 ).[clinicaldermatology.eu]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment Mutation in the MECP2 Gene