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153 Possible Causes for Epilepsy, Urine Organic Acids Abnormal

  • Isovaleric Acidemia

    It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids.[] Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."[] Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems.[]

  • West Syndrome

    Urine organic acids, amino acids and serum biotinidase are done. CT or MRI scan of the brain is done before the treatment is started.[] The incidence of epilepsy was significantly lower in these treated subjects.[] To identify novel epilepsy genes using a panel approach and describe the functional consequences of mutations.[]

  • Hemiplegia

    organic acids, which is indicative of certain metabolic disorders; studies of cerebrospinal fluid (CSF), which can exclude neurotransmitter deficiency disorders with similar[] We report on a 5-year-old Japanese girl presenting with hemiconvulsion-hemiplegia-epilepsy syndrome after infection with parvovirus B19.[] Intractable epilepsy may develop at a time remote from the initial presentation.[]

  • Urea Cycle Disorder

    Urine organic acid analysis revealed no specific abnormalities. DNA analysis showed no mutation in the OTC gene.[] The risk of asymptomatic hyperammonemia in children with idiopathic epilepsy treated with valproate: Relationship to blood carnitine status. Epilepsy Res . 2009 May 13.[] Treatment of deficiencies with levomefolic acid (5-MTHF) can decrease many symptoms, including epilepsy, developmental delays, autistic features and even symptoms involved[]

  • Hartnup Disease

    Of note, rheumatoid factor, anti-nuclear antibody, Human Immunodeficiency Virus (HIV) status, vitamin B12, folate, ferritin level and urine organic acids were all normal.[] […] of sex development 46,XX精巣性性分化異常症 46,XX testicular disorder of sex development 46,XY性分化異常症 46,XY disorder of sex development 外転神経疾患 abducens nerve disease 欠神てんかん absence epilepsy[] What is Epilepsy?[]

  • 2-Hydroxyglutaric Aciduria

    Differential diagnosis Urinary organic acid screening does not allow differentiation between L-2-hydroxygluratic acid and D-2-hydroxyglutaric acid.[] The epilepsy was partially controlled with antiepileptic drugs.[] Thus, our report will facilitate the recognition of this distinctive entity, and we suggest that a urine organic acid screening be obtained in patients who present with generalized[]

  • Alternating Hemiplegia of Childhood

    Urine studies Urine organic acid levels can sometimes help exclude other suspected metabolic disorders, which can cause similar symptoms.[] He is an elected member of the Directory of the Italian League against Epilepsy and a Key Member of the Commission on Pediatrics of the International League against Epilepsy[] AHC is commonly misdiagnosed as epilepsy.[]

  • Biotin-Responsive Basal Ganglia Disease

    Copyright 2013 Mosby Inc.All rights reserved. tandem mass spectrometry, urine for organic acids,and levels of lactic acid, ammonia, acylcarnitines, copper, ce-ruloplasmin,[] Between episodes patients exhibited generalized dystonia, epilepsy, and bilateral hyperintensities of the caudate and putamen. Clinical and radiologic findings.[] The dominating clinical features were ataxia, epilepsy started at 4 years, acquired microcephaly, and mild intellectual disability.[]

  • 2-Methylbutyryl-CoA Dehydrogenase Deficiency

    In patients with abnormal C5-carnitine levels, a further assessment with urine organic acid analysis and urine acylglycine detection is required.[] […] a patient with a possible metabolic epilepsy[] There are isolated case reports where individuals have been identified with SBCADD in addition to developmental delay and epilepsy.[]

  • Mitochondrial Disease

    acids and /or urine organic acids.[] RESULTS: Overall prevalence of epilepsy in the cohort was 23.1%. Mean age of epilepsy onset was 29.4 years.[] Epilepsy is part of the clinical phenotype in nearly 40% of children with mitochondrial disease, yet the underlying molecular mechanisms remain poorly understood.[]

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