Beta-ureidopropionase deficiency presenting with febrile status epilepticus.
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 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 differential diagnosis of convulsions, (febrile) status epilepticus, psychomotor retardation and possibly also ALTE-like events.
Assmann
Birgit E
BE
Van Kuilenburg
Andre B P
AB
Distelmaier
Felix
F
Abeling
Nico G G M
NG
Rosenbaum
Thorsten
T
Schaper
Jörg
J
Duran
Marinus
M
Mayatepek
Ertan
E
D000581:Amidohydrolases / Q000172:deficiency* / Q000235:genetics; D001284:Atrophy; D002493:Central Nervous System Diseases / Q000201:enzymology / Q000209:etiology / Q000473:pathology; D003937:Diagnosis, Differential; D005334:Fever / Q000175:diagnosis* / Q000378:metabolism; D006408:Hematoma, Subdural / Q000175:diagnosis / Q000473:pathology; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D011596:Psychomotor Disorders / Q000175:diagnosis; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism; D003294:Seizures, Febrile / Q000175:diagnosis; D013226:Status Epilepticus / Q000175:diagnosis* / Q000378:metabolism; D013941:Thymine / Q000378:metabolism*; D014498:Uracil / Q000378:metabolism*
D014498:Uracil; D000581:Amidohydrolases; C021590:beta-ureidopropionase; D013941:Thymine