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β-Ureidopropionase Deficiency Presenting with Febrile Status Epilepticus.

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Title: β-Ureidopropionase Deficiency Presenting with Febrile Status Epilepticus.
Authors: Assmann, Birgit E., Kuilenburg, Andre B. P., Distelmaier, Felix, Abeling, Nico G. G. M., Rosenbaum, Thorsten, Schaper, Jörg, Duran, Marinus, Mayatepek, Ertan
Source: Epilepsia (Series 4). Jan2006, Vol. 47 Issue 1, p215-217. 3p. 1 Black and White Photograph.
Subjects: Febrile seizures, Seizures (Medicine), Neurological disorders, Epilepsy, People with epilepsy, Uracil, Thymine, Diagnostic imaging
Abstract: β-Ureidopropionase is the third enzyme in the catabolic pathway of uracil and thymine. To date, only three other patients are reported with this inborn error of metabolism. We report the clinical presentation of a male patient who presented at the age of 4 months after an ALTE-like event (ALTE = acute life-threatening event) with febrile status epilepticus. Such a clinical presentation has not been reported before in this condition. Diagnosis was based on biochemical, enzymatic and molecular studies. MRI (magnetic resonance imaging) at the age of 11 months demonstrated large subdural hematomata and global supratentorial atrophy. At that time the patient showed severe psychomotor retardation with muscular hypotonia, extremely limited visual contact and poorly controlled epilepsy. Conclusions: Pyrimidine degradation defects should be included in the defferential diagnosis of convulsions, (febrile) status epilepticus, psychomotor retardation and possibly also ALTE-like events. [ABSTRACT FROM AUTHOR]
Copyright of Epilepsia (Series 4) is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: β-Ureidopropionase Deficiency Presenting with Febrile Status Epilepticus.
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  Data: <searchLink fieldCode="AR" term="%22Assmann%2C+Birgit+E%2E%22">Assmann, Birgit E.</searchLink><br /><searchLink fieldCode="AR" term="%22Kuilenburg%2C+Andre+B%2E+P%2E%22">Kuilenburg, Andre B. P.</searchLink><br /><searchLink fieldCode="AR" term="%22Distelmaier%2C+Felix%22">Distelmaier, Felix</searchLink><br /><searchLink fieldCode="AR" term="%22Abeling%2C+Nico+G%2E+G%2E+M%2E%22">Abeling, Nico G. G. M.</searchLink><br /><searchLink fieldCode="AR" term="%22Rosenbaum%2C+Thorsten%22">Rosenbaum, Thorsten</searchLink><br /><searchLink fieldCode="AR" term="%22Schaper%2C+Jörg%22">Schaper, Jörg</searchLink><br /><searchLink fieldCode="AR" term="%22Duran%2C+Marinus%22">Duran, Marinus</searchLink><br /><searchLink fieldCode="AR" term="%22Mayatepek%2C+Ertan%22">Mayatepek, Ertan</searchLink>
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  Data: <searchLink fieldCode="JN" term="%22Epilepsia+%28Series+4%29%22">Epilepsia (Series 4)</searchLink>. Jan2006, Vol. 47 Issue 1, p215-217. 3p. 1 Black and White Photograph.
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  Data: <searchLink fieldCode="DE" term="%22Febrile+seizures%22">Febrile seizures</searchLink><br /><searchLink fieldCode="DE" term="%22Seizures+%28Medicine%29%22">Seizures (Medicine)</searchLink><br /><searchLink fieldCode="DE" term="%22Neurological+disorders%22">Neurological disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Epilepsy%22">Epilepsy</searchLink><br /><searchLink fieldCode="DE" term="%22People+with+epilepsy%22">People with epilepsy</searchLink><br /><searchLink fieldCode="DE" term="%22Uracil%22">Uracil</searchLink><br /><searchLink fieldCode="DE" term="%22Thymine%22">Thymine</searchLink><br /><searchLink fieldCode="DE" term="%22Diagnostic+imaging%22">Diagnostic imaging</searchLink>
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  Data: β-Ureidopropionase is the third enzyme in the catabolic pathway of uracil and thymine. To date, only three other patients are reported with this inborn error of metabolism. We report the clinical presentation of a male patient who presented at the age of 4 months after an ALTE-like event (ALTE = acute life-threatening event) with febrile status epilepticus. Such a clinical presentation has not been reported before in this condition. Diagnosis was based on biochemical, enzymatic and molecular studies. MRI (magnetic resonance imaging) at the age of 11 months demonstrated large subdural hematomata and global supratentorial atrophy. At that time the patient showed severe psychomotor retardation with muscular hypotonia, extremely limited visual contact and poorly controlled epilepsy. Conclusions: Pyrimidine degradation defects should be included in the defferential diagnosis of convulsions, (febrile) status epilepticus, psychomotor retardation and possibly also ALTE-like events. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of Epilepsia (Series 4) is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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        Value: 10.1111/j.1528-1167.2006.00391.x
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      – SubjectFull: Thymine
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      – SubjectFull: Diagnostic imaging
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              Text: Jan2006
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