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Article

Beta-ureidopropionase deficiency presenting with febrile status epilepticus.

Epilepsia - 1 Jan 2006

Assmann Birgit E, Van Kuilenburg Andre B P, Distelmaier Felix, Abeling Nico G G M, Rosenbaum Thorsten, Schaper Jörg, Duran Marinus, Mayatepek Ertan

Abstract excerpt

UNLABELLED: Beta-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...

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Source

Identifiers

PMID: 16417553
DOI: 10.1111/j.1528-1167.2006.00391.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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