- Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency.
Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency.
Molecular genetics and metabolism (2011-10-25)
Saadet Mercimek-Mahmutoglu, Mary Dunbar, Andrea Friesen, Susan Garret, Carol Hartnett, Linda Huh, Graham Sinclair, Sylvia Stockler, Stephen Wellington, Petra J W Pouwels, Gajja S Salomons, Cornelis Jakobs
PMID22019491
RESUMO
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.
MATERIAIS