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X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.
We report the first X-linked creatine-deficiency syndrome caused by a defective creatine transporter. The male index patient presented with developmental delay and hypotonia. ProtonExpand
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Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?
Recent reports highlight the utility of in vivo magnetic resonance spectroscopy (MRS) techniques to recognize creatine deficiency syndromes affecting the central nervous system (CNS). Reported casesExpand
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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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Measurement of urinary D- and L-2-hydroxyglutarate enantiomers by stable-isotope-dilution liquid chromatography-tandem mass spectrometry after derivatization with diacetyl-L-tartaric anhydride.
BACKGROUND The differential diagnosis of 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) can beExpand
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Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.
d-2-hydroxyglutaric aciduria is a neurometabolic disorder with both a mild and a severe phenotype and with unknown etiology. Recently, a novel enzyme, d-2-hydroxyglutarate dehydrogenase, whichExpand
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GAMT deficiency
Background: Guanidinoactetate methyltransferase (GAMT) deficiency is an autosomal recessive disorder of creatine synthesis. The authors analyzed clinical, biochemical, and molecular findings in 27Expand
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Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency
Prospective observation in a neonate with guanidinoacetate methyltransferase deficiency (GAMT-D), a severe neurometabolic disorder, revealed increased guanidinoacetate levels at birth. After 14-monthExpand
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Lack of creatine in muscle and brain in an adult with GAMT deficiency
Guanidinoacetate methyltransferase deficiency, which so far has been exclusively detected in children, was diagnosed in a 26‐year‐old man. The full‐blown spectrum of clinical symptoms already hadExpand
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Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease.
Transaldolase (TALDO) deficiency is a newly recognized metabolic disease, which has been reported so far in 2 patients presenting with liver failure and cirrhosis. We report a new sibship of 4Expand
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Kinetic characterization of human hydroxyacid–oxoacid transhydrogenase: Relevance toD-2-hydroxyglutaric and γ-hydroxybutyric acidurias
SummaryWe investigated the presence of hydroxyacid–oxoacid transhydrogenase (HOT), which catalyses the cofactor-independent conversion of γ-hydroxybutyrate (GHB) to succinic semialdehyde coupled toExpand
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