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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.[ghr.nlm.nih.gov] Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."[ncbi.nlm.nih.gov] Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems.[ghr.nlm.nih.gov]

  • 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.[epainassist.com] The incidence of epilepsy was significantly lower in these treated subjects.[ncbi.nlm.nih.gov] To identify novel epilepsy genes using a panel approach and describe the functional consequences of mutations.[ncbi.nlm.nih.gov]

  • Hemiplegia

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

  • Urea Cycle Disorder

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

  • 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.[bmcpediatr.biomedcentral.com] […] 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[life-science-dictionary.com] What is Epilepsy?[cyberspaceandtime.com]

  • 2-Hydroxyglutaric Aciduria

    Differential diagnosis Urinary organic acid screening does not allow differentiation between L-2-hydroxygluratic acid and D-2-hydroxyglutaric acid.[orpha.net] The epilepsy was partially controlled with antiepileptic drugs.[ncbi.nlm.nih.gov] 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[ncbi.nlm.nih.gov]

  • Alternating Hemiplegia of Childhood

    Urine studies Urine organic acid levels can sometimes help exclude other suspected metabolic disorders, which can cause similar symptoms.[pediatricmotordisorders.org] 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[books.google.com] AHC is commonly misdiagnosed as epilepsy.[ruralneuropractice.com]

  • 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,[docslide.com.br] Between episodes patients exhibited generalized dystonia, epilepsy, and bilateral hyperintensities of the caudate and putamen. Clinical and radiologic findings.[ncbi.nlm.nih.gov] The dominating clinical features were ataxia, epilepsy started at 4 years, acquired microcephaly, and mild intellectual disability.[medworm.com]

  • 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.[symptoma.com] […] a patient with a possible metabolic epilepsy[books.google.de] There are isolated case reports where individuals have been identified with SBCADD in addition to developmental delay and epilepsy.[en.wikipedia.org]

  • Mitochondrial Disease

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

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