AI Summary & Key Takeaways
AI InsightOne of the patients was detected to have a novel mutation.
📌 3 Key Takeaways
Abstract
Menkes disease is a rare neurodegenerative disorder. Its clinical signs and symptoms appear due to a defect in copper metabolism. Its clinical manifestation is marked by pili torti and trichorrhexis nodosa, which are the disease-specific hair findings. Additionally, neurological signs may occur, such as hypotonia and convulsions. Detection of a mutation affecting the P-type ATPase gene is highly specific. The lack of an effective treatment modality has increased the importance of prenatal diagnosis and genetic coun-seling. Here, we report two patients who were diagnosed with Menkes disease by virtue of hair findings and genetic studies while being tested for hypotonia. One of the patients was detected to have a novel mutation.