日本語フィールド
著者：*Chie Fujisawa, Hiroko Kodama, Yasuhiro Sato, Masakazu Mimaki, Mariko Yagi, Hiroyuki Awano, Muneaki Matsuo, Haruo Shintaku, Sayaka Yoshida, Masaki Takayanagi, Mitsuru Kubota, Akihito Takahashi, Yoshikiyo Akasaka題名：Early clinical signs and treatment of Menkes disease 発表情報：Mol Genet Metab Rep 巻: 31 ページ: 100849キーワード：DEDTC, diethyldithiocarbamate; Early symptom; Early treatment; MD, Menkes disease; Menkes disease; NBS, newborn screening; PCR, polymerase chain reaction; Prognosis; WISC-IV, Wechsler Intelligence Scale for Children, fourth edition概要：Menkes disease (MD) is an X-linked recessive disorder caused by mutations in ATP7A. Patients with MD exhibit severe neurological and connective tissue disorders due to copper deficiency and typically die before 3 years of age. Early treatment with copper injections during the neonatal period, before the occurrence of neurological symptoms, can alleviate neurological disturbances to some degree. We investigated whether early symptoms can help in the early diagnosis of MD. Abnormal hair growth, prolonged jaundice, and feeding difficulties were observed during the neonatal period in 20 of 69, 16 of 67, and 3 of 18 patients, respectively. Only three patients visited a physician during the neonatal period; MD diagnosis was not made at that point. The mean age at diagnosis was 8.7 months. Seven patients, who were diagnosed in the prenatal stage or soon after birth, as they had a family history of MD, received early treatment. No diagnosis was made based on early symptoms, highlighting the difficulty in diagnosing MD based on symptoms observed during the neonatal period. Patients who received early treatment lived longer than their elderly relatives with MD. Three patients could walk and did not have seizures. Therefore, effective newborn screening for MD should be prioritized. 抄録：英語フィールド
Author：*Chie Fujisawa, Hiroko Kodama, Yasuhiro Sato, Masakazu Mimaki, Mariko Yagi, Hiroyuki Awano, Muneaki Matsuo, Haruo Shintaku, Sayaka Yoshida, Masaki Takayanagi, Mitsuru Kubota, Akihito Takahashi, Yoshikiyo AkasakaTitle：Early clinical signs and treatment of Menkes disease Announcement information:Mol Genet Metab Rep Vol: 31 Page: 100849Keyword：DEDTC, diethyldithiocarbamate; Early symptom; Early treatment; MD, Menkes disease; Menkes disease; NBS, newborn screening; PCR, polymerase chain reaction; Prognosis; WISC-IV, Wechsler Intelligence Scale for Children, fourth editionAn abstract：Menkes disease (MD) is an X-linked recessive disorder caused by mutations in ATP7A. Patients with MD exhibit severe neurological and connective tissue disorders due to copper deficiency and typically die before 3 years of age. Early treatment with copper injections during the neonatal period, before the occurrence of neurological symptoms, can alleviate neurological disturbances to some degree. We investigated whether early symptoms can help in the early diagnosis of MD. Abnormal hair growth, prolonged jaundice, and feeding difficulties were observed during the neonatal period in 20 of 69, 16 of 67, and 3 of 18 patients, respectively. Only three patients visited a physician during the neonatal period; MD diagnosis was not made at that point. The mean age at diagnosis was 8.7 months. Seven patients, who were diagnosed in the prenatal stage or soon after birth, as they had a family history of MD, received early treatment. No diagnosis was made based on early symptoms, highlighting the difficulty in diagnosing MD based on symptoms observed during the neonatal period. Patients who received early treatment lived longer than their elderly relatives with MD. Three patients could walk and did not have seizures. Therefore, effective newborn screening for MD should be prioritized. 