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Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.
In this study, measurements of guanidinoacetate (GAA) and creatine (Cr) in urine, plasma, and cerebrospinal fluid (CSF) were performed using stable isotope dilution gas chromatography-massExpand
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Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway.
This article describes the first patient with a deficiency of transaldolase (TALDO1 [E.C.2.2.1.2]). Clinically, the patient presented with liver cirrhosis and hepatosplenomegaly during early infancy.Expand
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N-Acetylaspartate and neurofilaments as biomarkers of axonal damage in patients with progressive forms of multiple sclerosis
Primary and secondary progressive forms of multiple sclerosis (PPMS and SPMS) have different pathological characteristics. However, it is unknown whether neurodegenerative mechanisms are shared. WeExpand
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Evaluation of pentitol metabolism in mammalian tissues provides new insight into disorders of human sugar metabolism.
To more completely elucidate the pathways of sugar metabolism in human, we have evaluated the formation and degradation of pentitols in human fibroblasts and erythrocytes. Cultured human fibroblastsExpand
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Determination of guanidinoacetate and creatine in urine and plasma by liquid chromatography-tandem mass spectrometry.
In the last 10 years, three new inborn errors of creatine metabolism and transport, called creatine deficiency syndromes (CDS), have been described (1). These are deficiencies of arginine:glycineExpand
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Quantification of sugar phosphate intermediates of the pentose phosphate pathway by LC-MS/MS: application to two new inherited defects of metabolism.
We describe a liquid chromatography tandem mass spectrometry (LC-MS/MS) method to quantify pentose phosphate pathway intermediates (triose-3-phosphates, tetrose-4-phosphate, pentose-5-phosphate,Expand
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Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency.
Arginine:glycine amidinotransferase (AGAT) is the enzyme responsible for the conversion of arginine and glycine into guanidinoacetate (GuAc) and ornithine in creatine biosynthesis. AGAT deficiencyExpand
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Disease-related metabolites in culture medium of fibroblasts from patients with D-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria, and combined D/L-2-hydroxyglutaric aciduria.
BACKGROUND D-2-Hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and the combined D/L-2-hydroxyglutaric aciduria (D/L-2-HGA) are poorly understood organic acidurias. ToExpand
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Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency.
Creatine in the human body is derived from two sources: the diet and endogenous synthesis. Biosynthesis involves two enzymes: l-arginine:glycine amidinotransferase (EC 2.1.4.1) and guanidinoacetate NExpand
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Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.
Whole-exome sequencing (WES) is increasingly being utilized to diagnose individuals with undiagnosed disorders. Developmental delay and short stature are common clinical indications for WES. WeExpand
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