Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: Diagnostic tools for a new inborn error of metabolism
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چکیده
منابع مشابه
Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis.
The first inborn error of creatine metabolism (guanidinoacetate methyltransferase [GAMT] deficiency) has recently been recognized in an infant with progressive extrapyramidal movement disorder. The diagnosis was established by creatine deficiency in the brain as detected by in vivo magnetic resonance spectroscopy and by defective GAMT activity and two mutant GAMT alleles in a liver biopsy. Here...
متن کاملGuanidinoacetate methyltransferase (GAMT) deficiency
Keywords Disease name and synonyms Excluded diseases Diagnostic criteria / definition Prevalence Clinical description Management including treatment Etiology Diagnostic methods Genetic counseling / Prenatal diagnosis Unresolved Problems References Abstract Guanidinoacetate methyltransferase (GAMT, EC 2.1.1.2) deficiency is a newly recognized inborn error of creatine synthesis. The clinical phen...
متن کاملReview: Human guanidinoacetate n-methyl transferase (GAMT) deficiency: A treatable inborn error of metabolism.
The creatine biosynthetic pathway is essential for cellular phosphate associated energy production and storage, particularly in tissues having higher metabolic demands. Guanidinoacetate N-Methyl transferase (GAMT) is an important enzyme in creatine endogenous biosynthetic pathway, with highest expression in liver and kidney. GAMT deficiency is an inherited autosomal recessive trait that was the...
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This is the first report of a patient with aminoacylase I deficiency. High amounts of N-acetylated amino acids were detected by gas chromatography-mass spectrometry in the urine, including the derivatives of serine, glutamic acid, alanine, methionine, glycine, and smaller amounts of threonine, leucine, valine, and isoleucine. NMR spectroscopy confirmed these findings and, in addition, showed th...
متن کاملArginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans.
Arginine:glycine amidinotransferase (AGAT) catalyzes the first step of creatine synthesis, resulting in the formation of guanidinoacetate, which is a substrate for creatine formation. In two female siblings with mental retardation who had brain creatine deficiency that was reversible by means of oral creatine supplementation and had low urinary guanidinoacetate concentrations, AGAT deficiency w...
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ژورنال
عنوان ژورنال: The Journal of Pediatrics
سال: 1997
ISSN: 0022-3476
DOI: 10.1016/s0022-3476(97)70075-1