Create issue ticket

1,912 Possible Causes for Attention Deficit Disorder - in Those Who Stop Treatment, Mousy Odor, Progressive Mental Retardation

  • Classical Phenylketonuria

    Phenylketonuria (PKU) is a treatable autosomal recessive condition which, without treatment, causes progressive mental retardation.[clinicaladvisor.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]

  • Phenylketonuria

    Phenylketonuria (PKU) is characterized by phenylalanine accumulation and progressive mental retardation caused by an unknown mechanism.[ncbi.nlm.nih.gov] 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] If untreated, the disorder can cause brain damage and progressive mental retardation as a result of the accumulation of phenylalanine and its breakdown products.[yourdictionary.com]

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

    Untreated individuals have very fair hair, eczema, a mousy odor of the urine and skin, and progressive mental retardation.[medical-dictionary.thefreedictionary.com] Additionally, excessive phenylalanine and its metabolic byproduct, phenylketones, have been attributed to the musty/mousy odor detectable in some untreated individuals.[invitae.com] This group of disorders, with the exception of PCD, is characterized by progressive dystonia, truncal hypotonia, extremity hypertonia, seizures, and mental retardation though[mayomedicallaboratories.com]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment
  • Disorder of Amino Acid Metabolism

    . • If not treated, affected infants progressively develop mental retardation over the first few years of life, which eventually becomes severe. 10. • Other symptoms include[slideshare.net] The usual clinical manifestations of these syndromes are enlargement of the liver and spleen, skeletal deformities, coarse facial features, stiff joints, and mental retardation[medicine.jrank.org] Other clinical features include seizures, a mousy body odor, and eczema. Left untreated, accumulated phenylalanine can cause severe mental retardation.[encyclopedia.com]

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

    Asbjorn Folling, who detected phenylpyruvic acid in the urine of two mentally retarded siblings. 2 If left untreated, PKU leads to progressive developmental delay, severe[dailyrounds.org] ' 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] This group of disorders, with the exception of PCD, is characterized by progressive dystonia, truncal hypotonia, extremity hypertonia, seizures, and mental retardation though[mayomedicallaboratories.com]

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

    Brachydactyly mental retardation syndrome (BDMR) is an autosomal dominant disorder, caused by haploinsufficiency of histone deacetylase 4 (HDAC4), also on chromosome 2q37.[ncbi.nlm.nih.gov] retardation, infantile hypotonia, progressive neurologic impairment, recurrent infections, bladder dysfunction, and absent speech.[ncbi.nlm.nih.gov] One of several phenotypes associated with different mutations of the fragile X mental retardation 1 gene (FMR1), FXTAS involves progressive action tremor, gait ataxia, and[ncbi.nlm.nih.gov]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment Mousy Odor
  • Hallervorden-Spatz Syndrome

    It is characterized by progressive Parkinson-like rigidity, athetotic movements, and progressive mental and emotional retardation.[whonamedit.com] At about 1 1/2 years of age the patients with Hallerworden‐Spatz disease developed clinical signs including progressive extrapyramidal motor disorder and mental retardation[doi.org] Case 3: A 11-year-old girl presented with progressively increasing mental retardation and extra-pyramidal symptoms, since the age of four years.[jpgmonline.com]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment Mousy Odor
  • Niemann-Pick Disease

    retardation.[icd9data.com] Some clinical (but not biochemical) manifestations may disappear later in life Rapidly progressing disease of young children, characterized histologically by abnormal fibroblasts[icd9data.com] […] accumulation of apolipoprotein b-like protein in intestinal cells, deficient blood apolipoproteins, and avitaminosis e manifested by malnutrition, steatorrhea, and growth and mental[icd9data.com]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment Mousy Odor
  • Pelizaeus-Merzbacher Disease

    retardation is not severe, some patients show dementia or personality disorders, the disease is progressive rather than static in some, and several females show signs of[ncbi.nlm.nih.gov] […] and both the classical and connatal forms of PMD in that it is relatively mild in form, onset is delayed beyond age 2 years, nystagmus is absent, tremors are prominent, mental[ncbi.nlm.nih.gov]

    Missing: Attention Deficit Disorder - in Those Who Stop Treatment Mousy Odor
  • Globoid Cell Leukodystrophy

    This metabolic disorder is characterized by progressive neurological dysfunction such as mental retardation, paralysis, blindness, deafness and paralysis of certain facial[rarediseases.org]

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