Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10832557 | Molecular Genetics and Metabolism | 2015 | 8 Pages |
Abstract
AGAT deficiency is a treatable intellectual disability. Early diagnosis may prevent IDD and myopathy. Patients with unexplained IDD with and without myopathy should be assessed for AGAT deficiency by determination of urine/plasma GAA and cerebral creatine levels (via brain MRS), and by GATM gene sequencing.
Keywords
CRTRCPKMRSarginine:glycine amidinotransferaseGAAAGATIDDCDDUrineElectroencephalogramMRIIEMMagnetic resonance imagingInborn errors of metabolismProton magnetic resonance spectroscopyCSFCerebrospinal fluidMyopathyintellectual disabilityEEGPlasmacreatine transporterCreatine phosphokinaseGAMTGuanidinoacetate methyltransferaseGuanidinoacetate
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Authors
Sylvia Stockler-Ipsiroglu, Delia Apatean, Roberta Battini, Suzanne DeBrosse, Kimberley Dessoffy, Simon Edvardson, Florian Eichler, Katherine Johnston, David M. Koeller, Sonia Nouioua, Meriem Tazir, Ashok Verma, Monica D. Dowling, Klaas J. Wierenga,