Abstract
Cerebral creatine deficiency syndromes (CCDS) are caused by genetic defects in L-arginine:glycine amidinotransferase, guanidinoacetate methyltransferase or creatine transporter 1. CCDS are characterized by abnormal concentrations of urinary creatine (CR), guanidinoacetic acid (GA), or creatinine (CN). In this study, we describe a simple HPLC method to determine the concentrations of CR, GA, and CN using a weak-acid ion chromatography column with a UV detector without any derivatization. CR, GA, and CN were separated clearly with the retention times (mean ± SD, n = 3) of 5.54 ± 0.0035 min for CR, 6.41 ± 0.0079 min for GA, and 13.53 ± 0.046 min for CN. This new method should provide a simple screening test for the diagnosis of CCDS.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Brain Diseases, Metabolic, Inborn / diagnosis*
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Brain Diseases, Metabolic, Inborn / urine*
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Chromatography, High Pressure Liquid
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Chromatography, Ion Exchange
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Creatine / deficiency
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Creatine / isolation & purification
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Creatine / urine*
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Creatinine / isolation & purification
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Creatinine / urine*
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Glycine / analogs & derivatives*
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Glycine / isolation & purification
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Glycine / urine
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Humans
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Male
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Plasma Membrane Neurotransmitter Transport Proteins / deficiency
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Plasma Membrane Neurotransmitter Transport Proteins / urine
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Transferases / deficiency
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X-Linked Intellectual Disability / diagnosis*
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X-Linked Intellectual Disability / urine*
Substances
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Plasma Membrane Neurotransmitter Transport Proteins
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Creatinine
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Transferases
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glycocyamine
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Creatine
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Glycine
Supplementary concepts
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Creatine deficiency, X-linked