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脳クレアチン欠乏症候群に関する論文をご紹介します。

尿中クレアチン／クレアチニン比と家族歴より診断に至ったクレアチントランスポーター 欠損症の1家系：本邦3家系目 野崎章仁、熊田知浩、柴田実、藤井達哉、和田敬仁、小坂仁 脳と発達 2015;47:49-52

Kato H, Miyake F, Shimbo H, Ohya M, Sugawara H, Aida N, Anzai R, Takagi M,Okuda M, Takano K, Wada T, Iai M, Yamashita S, Osaka H. Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8. Brain Dev. 2014 Aug;36(7):630-3.

Wada T, Shimbo H, Osaka H. A simple screening method using ion chromatography for the diagnosis of cerebral creatine deficiency syndromes. Amino Acids. 2012 Aug;43(2):993-7.

van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grunewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T,Yntema H,Campistol J, Vilaseca MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P,Valongo C,Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer HE,Hofstede F,Johnson D, Kant SG, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit JA,Monteiro JP, Munnich A, Muntau AC, Nassogne MC, Osaka H, Ounap K, Pinard JM, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A,Yaplito-Lee J,Schulze A, Schwartz CE, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink MM, Pouwels PJ, Errami A, van der Knaap MS,Jakobs C,Mancini GM, Salomons GS. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. J Med Genet. 2013 Jul;50(7):463-72.

Akiyama T, Osaka H, Shimbo H, Nakajiri T, Kobayashi K, Oka M, Endoh F,Yoshinaga H. A Japanese adult case of guanidinoacetate methyltransferase deficiency. JIMD Rep. 2014;12:65-9.

Osaka H, Takagi A, Tsuyusaki Y, Wada T, Iai M, Yamashita S, Shimbo H,Saitsu H, Salomons GS, Jakobs C, Aida N, Toshihiro S, Kuhara T, Matsumoto N. Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness. Mol Genet Metab. 2012 May;106(1):43-7.

van de Kamp JM, et al. “Phenotype and genotype in 101 males with X-linked creatine transporter deficiency”. J Med Genet 2013; 50: 463-472. Doi:10.1136/jmedgenet-2013-101658


Takahito Wada, et al. “A simple screening method using ion chromatography for the diagnosis of cerebral creatine deficiency syndromes”. Amino Acids 2012; 43:993-997. Doi: 10.1007/s00726-011-1146-1