Abstract
Arginine:glycine amidinotransferase deficiency is a treatable inborn error of creatine synthesis, characterized by mental retardation, language impairment, and behavioral disorders. We describe a patient in whom arginine:glycine amidinotransferase was diagnosed at birth and treated at 4 months with creatine supplementation. In contrast with his 2 older sisters, he had normal psychomotor development at 18 months.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Amidinotransferases / deficiency*
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Amidinotransferases / genetics
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Breast Feeding
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Creatine / analysis
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Creatine / biosynthesis
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Creatine / therapeutic use*
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Dietary Supplements
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Humans
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Infant, Newborn
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Magnetic Resonance Spectroscopy
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Male
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Mental Disorders / etiology
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Mental Disorders / therapy
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Metabolism, Inborn Errors / complications
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Metabolism, Inborn Errors / genetics
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Metabolism, Inborn Errors / therapy*
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Milk, Human / chemistry
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Mutation
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Phenotype
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Psychomotor Performance
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Time Factors
Substances
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Amidinotransferases
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glycine amidinotransferase
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Creatine