Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency

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• 作者：Saadet Mercimek-Mahmutoglu^a ; ^b ; ^{smahmutoglu@cw.bc.ca} ; Mary Dunbar^c ; Andrea Friesen^d ; Susan Garret^d ; Carol Hartnett^a ; Linda Huh^e ; Graham Sinclair^f ; Sylvia Stockler^a ; Stephen Wellington^g ; Petra J.W. Pouwels^h ; Gajja S. Salomons^b ; Cornelis Jakobs^b
• 关键词：GAMT-D ; Guanidinoacetate methyltransferase deficiency ; MRS ; Magnetic resonance spectroscopy ; MRI ; Magnetic resonance imaging ; GAA ; Guanidinoacetate ; BG ; Basal ganglia ; WM ; White matter ; NAA ; N-acetylaspartic acid ; CDS ; Creatine deficiency syndromes ; BSID-
• 刊名：Molecular Genetics and Metabolism
• 出版年：2012
• 出版时间：January 2012
• 年：2012
• 卷：105
• 期：1
• 页码：155-158
• 全文大小：149 K

文摘

A 4-year-old female with history of developmental regression and autistic features was diagnosed with guanidinoacetate methyltransferase deficiency at age 21 months. Upon treatment, she showed improvements in her developmental milestones, sensorial-neural hearing loss and brain atrophy on cranial-MRI. The creatine/choline ratio increased 82 % in basal ganglia and 88 % in white matter on cranial MR-spectroscopy. The CSF guanidinoacetate decreased 80 % after six months of ornithine and creatine supplementation and an additional 8 % after 18 months of additional arginine restricted diet. We report the most favorable clinical and biochemical outcome on treatment in our patient.