1. Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect.
- Author
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van der Knaap MS, Verhoeven NM, Maaswinkel-Mooij P, Pouwels PJ, Onkenhout W, Peeters EA, Stöckler-Ipsiroglu S, and Jakobs C
- Subjects
- Aspartic Acid analogs & derivatives, Aspartic Acid analysis, Body Fluids chemistry, Brain Diseases, Metabolic diagnosis, Brain Diseases, Metabolic drug therapy, Brain Diseases, Metabolic metabolism, Child, Preschool, Creatine administration & dosage, Creatine urine, Diagnosis, Differential, Epilepsy diagnosis, Epilepsy metabolism, Follow-Up Studies, Glycine analogs & derivatives, Glycine analysis, Humans, Infant, Intellectual Disability drug therapy, Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, Male, Mental Disorders drug therapy, Creatine biosynthesis, Intellectual Disability diagnosis, Intellectual Disability metabolism, Mental Disorders diagnosis, Mental Disorders metabolism
- Abstract
Recently, 3 patients with a creatine synthesis defect have been described. They presented with developmental regression, extrapyramidal movement abnormalities, and intractable epilepsy, and they improved with treatment of creatine monohydrate. We report 2 unrelated boys with a creatine synthesis defect and nonspecific presenting signs of psychomotor retardation, behavioral problems, and, in 1, mild epilepsy. Metabolic urine screening revealed elevations in all metabolites, expressed as millimoles per mole of creatinine, which suggests decreased creatinine excretion. This finding led to the correct diagnosis. We propose to include the assessment of the overall concentrations of amino acids and organic acids relative to creatinine in routine metabolic urine screening.
- Published
- 2000
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