Enzyme Assay for Diagnosis of Guanidinoacetate Methyltransferase Deficiency
نویسندگان
چکیده
منابع مشابه
Enzyme Assay for Diagnosis of Guanidinoacetate Meth
azathiprine or 6-mercaptopurine: evidence for a potentially serious drug interaction [Letter]. Gastroenterology 1999;116:1505–6. 5. Szumlanski CL, Weinshilboum RM. Sulphasalazine inhibition of thiopurine methyltransferase: possible mechanism for interaction with 6-mercaptopurine and azathioprine. Br J Clin Pharmacol 1995;39:456–9. 6. Lowry PW, Franklin CL, Weaver AL, Szumlanski CL, Mays DC, Lof...
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 کاملPrenatal diagnosis of guanidinoacetate methyltransferase deficiency: increased guanidinoacetate concentrations in amniotic fluid.
between serum and serum spotted on Guthrie cards nor differences between the Tf profiles on CE. We therefore expect that the rate of positive outcomes suggesting CDG will be similar. In conclusion, analysis of a sufficient amount of serum spotted on a Guthrie card, stored at 20 °C and transported by air, gives information about the Tf profile similar to that obtained by analysis of serum. Altho...
متن کاملGuanidinoacetate methyltransferase (GAMT) deficiency: a rare but treatable epilepsy.
Epilepsy commonly presents in childhood as part of a syndrome, and some such children may reach adult services without an underlying syndromic diagnosis. For adult neurologists taking over their care, it is often unclear how hard to search for an underlying diagnosis. The diagnostic yield may be small and such a diagnosis may not change management. Young adults with learning difficulties are al...
متن کاملMild guanidinoacetate increase under partial guanidinoacetate methyltransferase deficiency strongly affects brain cell development.
Among cerebral creatine deficiency syndromes, guanidinoacetate methyltransferase (GAMT) deficiency can present the most severe symptoms, and is characterized by neurocognitive dysfunction due to creatine deficiency and accumulation of guanidinoacetate in the brain. So far, every patient was found with negligible GAMT activity. However, GAMT deficiency is thought under-diagnosed, in particular d...
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 2004
ISSN: 0009-9147,1530-8561
DOI: 10.1373/clinchem.2003.022764