β-Ureidopropionase Deficiency Presenting with Febrile Status Epilepticus.

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Bibliographic Details
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]
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Database:	Psychology and Behavioral Sciences Collection

Description
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]
ISSN:	00139580
DOI:	10.1111/j.1528-1167.2006.00391.x