AI Article Synopsis
- Beta-ureidopropionase is identified as the third enzyme involved in breaking down uracil and thymine, with only three previous cases reported.
- A case study is detailed of a male patient who experienced febrile status epilepticus after an ALTE-like event at 4 months old, a unique presentation for this condition.
- The diagnosis was confirmed through various studies, and imaging revealed significant brain damage, leading to severe developmental issues and epilepsy in the patient.
Article Abstract
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 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.
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| http://dx.doi.org/10.1111/j.1528-1167.2006.00391.x | DOI Listing |
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