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AI Summary & Key Takeaways
AI Insight⚡ TL;DR(Too Long; Didn't Read)
We present amale with neonatal convulsions; structural brain anomaly, hyperglycinemia inCSF/plasma, with ALDH7A1 Compound heterozygote mutation.
📌 3 Key Takeaways
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Objective & Hypothesis:Pyridoxine-dependent epilepsy (PDE) is a rare but an important condition,since early diagnosis and treatment result in normal or near normalpsychomotor development.
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Key Findings & Data:It is caused by mutations in the Antiquitin(ALDH7A1) gene.
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Conclusion & Impact:We present amale with neonatal convulsions; structural brain anomaly, hyperglycinemia inCSF/plasma, with ALDH7A1 Compound heterozygote mutation.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
Özet
Pyridoxine-dependent epilepsy (PDE) is a rare but an important condition,since early diagnosis and treatment result in normal or near normalpsychomotor development. It is caused by mutations in the Antiquitin(ALDH7A1) gene. Different clinical findings may appear in the deficiency ofpyridoxine, which is the cofactor of many enzymes. A wide variety of clinicaland laboratory findings can cause confusion during diagnosis. We present amale with neonatal convulsions; structural brain anomaly, hyperglycinemia inCSF/plasma, with ALDH7A1 Compound heterozygote mutation.
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Cite This Article
TEKİN, H. G., DEMİR, M., AKTAN, G., TEKGÜL, H., GÖKBEN, S. (2019). The case of pyridoxine dependent epilepsy misdiagnosed as non-ketotic hyperglycinemia. Turkish Journal of Pediatrics, Cilt: 61 - Sayı: 4, 599–603. https://ajindex.com/articles/412099