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97 Possible Causes for Mousy Odor, Phenylketonuria

  • Classical Phenylketonuria

    - pku , Phenylketonurias [Disease/Finding] , phenylketonurias , phenylketonuria (PKU) , phenylketouria , pku phenylketonuria , Phenylketonuria (disorder) , Classical Phenylketonuria[fpnotebook.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

    The extent of the deficiency depends on the enzyme activity, complete deficiency causes phenylketonuria, with residual enzyme activity causing mild phenylketonuria.[symptoma.com] 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]

  • Atypical Phenylketonuria

    An Approach to Diagnosis and Management Abstract Nine children with atypical phenylketonuria are described from a Phenylketonuric Clinic of 56 children.[adc.bmj.com] 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, PKU leads to mental retardation, seizures, psychoses, eczema and a distinctive “mousyodor.[chdbabies.com]

  • 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] ' 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] Due to a positive family history prenatal diagnosis for phenylketonuria was performed, revealing heterozygosity for classic phenylketonuria.[ncbi.nlm.nih.gov]

  • Phenylalanine Increased

    Editorial (1979) The growing problems of phenylketonuria. Lancet II: 1381–1383 Google Scholar 14.[link.springer.com] Additionally, excessive phenylalanine and its metabolic byproduct, phenylketones, have been attributed to the musty/mousy odor detectable in some untreated individuals.[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]

  • Metabolic Disorder of Amino Acids

    Phenylketonuria (PKU) is an inherited metabolic disorder. Individuals having phenylketonuria do not have the ability to further metabolize phenylalanine.[sigmaaldrich.com] . • Untreated children often give off a "mousy" body and urine odor as a result of a by-product of phenylalanine (Phenyllactate, Phenylacetate and Phenylpyruvate) in their[slideshare.net] Medical foods made from glycomacropeptide have been used successfully for the management of phenylketonuria and tyrosinemia.[ncbi.nlm.nih.gov]

  • Disorder of Carbohydrate Metabolism

    Routing screening for the common disorders of amino acid metabolism entails Phenylketonuria Maple syrup urine disease Homocystinuria Tyrosinemia Alkaptonuria Phenylketonuria[lecturio.com] Other clinical features include seizures, a mousy body odor, and eczema. Left untreated, accumulated phenylalanine can cause severe mental retardation .[encyclopedia.com] Untreated children often give off a "mousy" body and urine odor as a result of a by-product of phenylalanine (phenylacetic acid) in their urine and sweat.[encognitive.com]

  • Autosomal Dominant Mental Retardation 21

    Learning About Phenylketonuria (PKU) What is phenylketonuria (PKU)? What are the symptoms of PKU? How is PKU diagnosed? What is the treatment for PKU? Is PKU inherited?[genome.gov] Mental deterioration, hypopigmentation (blond hair and blue eyes), mousy body odor (from phenylacetic acid in urine and sweat).[kumc.edu] They are more common because the males because males have only one X Chromosome Explain why eating "sugar free" foods causes a person with Phenylketonuria to become retarded[quizlet.com]

  • Transient Neonatal Hypertyrosinemia

    Medical Research Council, Treatment of Phenylketonuria. Brit. Med. J. 2 , 1691–1697 (1963) Google Scholar 45. Working Party on Phenylketonuria.[link.springer.com] odor, light pigmentation, abnormal gait, autistic behavior, eczema, seizure • Inheritance: Autosomal Recessive Diagnosis: hyperphenylalaninemia, liver enzymes and newborn[quizlet.com] Learning outcome • Phenylketonuria (PKU) • Alkaptonuria • Albinism • Hypertyrosinemias 3. 1)Phenylketonuria (PKU) Intro • Genetic mutation; – enzyme not synthesized – enzyme[slideshare.net]

  • Autosomal Recessive Mental Retardation 3

    Learning About Phenylketonuria (PKU) What is phenylketonuria (PKU)? What are the symptoms of PKU? How is PKU diagnosed? What is the treatment for PKU? Is PKU inherited?[genome.gov] Mental deterioration, hypopigmentation (blond hair and blue eyes), mousy body odor (from phenylacetic acid in urine and sweat).[kumc.edu] […] autosomal recessive traits are known, the most common ones being: disorder frequency/1000 births cystic fibrosis 0.5 recessive mental retardation 0.5 congenital deafness 0.2 phenylketonuria[gpnotebook.co.uk]

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