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The urea cycle generates arginine that is one of the major precursors for creatine biosynthesis. Here we evaluate levels of creatine and guanidinoacetate (the precursor in the synthesis of creatine) in plasma samples (ns = 207) of patients (np = 73) with different types of urea cycle disorders (ornithine transcarbamylase deficiency (ns = 22; np […]

Nocturnal enuresis (NE) is a common problem among 10% school-aged children. The etiologies underlying childhood NE is complex and not fully understood nowadays. Nevertheless, increasing evidence suggests a potential link between neurobehavioral disorders and enuresis in children. In this study, we aimed to explore novel metabolomic insights into the pathophysiology of NE and also, its […]

Guanidinoacetate methyltransferase deficiency is one of three cerebral creatine deficiency syndromes due to pathogenic variants in the GAMT gene (19p13.3). GAMT-D is characterized by the accumulation of guanidinoacetic acid (GAA) and the depletion of Cr, which result in severe global developmental delay (and intellectual disability), movement disorder, and epilepsy. The GAMT knockout (KO) mouse model […]

GAMT deficiency is an inherited metabolic disorder that impairs the synthesis of creatine. Lack of brain creatine can cause intellectual disability, autistic-like behavior, seizures, and movement disorders. Identification at birth and immediate therapy can prevent intellectual disability and seizures. Here we report the first two cases of GAMT deficiency identified at birth by newborn screening […]

Autism spectrum disorder (ASD) is a group of early-onset neurodevelopmental disorders. So far, there is no valid biomarker for the early diagnosis of ASD and a large-scale and multi-center study aims to identify metabolic variations between ASD and healthy children and to investigate differential metabolites and associated pathogenic mechanisms. MeOne hundred and seventeen autistic children […]

Muscle wasting, low protein intake, hypoalbuminemia, low body mass, and chronic fatigue are prevalent in hemodialysis patients. Impaired creatine status may be an often overlooked, potential contributor to these symptoms. However, little is known about creatine homeostasis in hemodialysis patients. We aimed to elucidate creatine homeostasis in hemodialysis patients by assessing intradialytic plasma changes as […]

Cerebral creatine deficiency disorders (CCDD) are inherited metabolic disorders of creatine synthesis and transport. Urine creatine metabolite panel is helpful to identify these disorders. We reviewed electronic patient charts for all patients that underwent urine creatine metabolite panel testing in the metabolic laboratory at our institution. There were 498 tests conducted on 413 patients. Clinical, […]

GAA (also known as glycocyamine) is a naturally occurring metabolite of glycine and direct metabolic precursor of creatine, a key component of brain energy metabolism and oxidant-antioxidant homeostasis. GAA concentrations in the brain, cerebrospinal fluid, serum, and urine are responsive to various brain conditions, including mental, behavioral and neurodevelopmental disorders. Specifically, GAA appears to be […]

Because genetic and environmental factors both contribute to rheumatoid arthritis (RA), metabolomics could be a very useful tool to elucidate the pathophysiology of RA, and to predict response to treatment. This study was carried out to investigate synovial fluid (SF) metabolic perturbation in RA patients according to the degree of disease activity using gas chromatography/time-of-flight […]

Metabolomic characterization of post-mortem tissues (frontal and parietal cortices, pons, cerebellum, hippocampus, cerebral cortex, liver and kidney) derived from a 37 y.o. male patient with succinic semialdehyde dehydrogenase deficiency (SSADHD) was performed in conjunction with four parallel series of control tissues. Amino acids, acylcarnitines, guanidino- species (guanidinoacetic acid, creatine, creatinine) and GABA-related intermediates were quantified […]