002 Compensation for impaired myocardial phosphotransfer in guanidinoacetate-N-methyltransferase knockout mice
نویسندگان
چکیده
منابع مشابه
Guanidinoacetate 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 کاملCardiac structure and function during ageing in energetically compromised Guanidinoacetate N-methyltransferase (GAMT)-knockout mice – a one year longitudinal MRI study
BACKGROUND High-resolution magnetic resonance imaging (cine-MRI) is well suited for determining global cardiac function longitudinally in genetically or surgically manipulated mice, but in practice it is seldom used to its full potential. In this study, male and female guanidinoacetate N-methyltransferase (GAMT) knockout, and wild type littermate mice were subjected to a longitudinal cine-MRI s...
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 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...
متن کاملLiving without creatine: unchanged exercise capacity and response to chronic myocardial infarction in creatine-deficient mice.
RATIONALE Creatine is thought to be involved in the spatial and temporal buffering of ATP in energetic organs such as heart and skeletal muscle. Creatine depletion affects force generation during maximal stimulation, while reduced levels of myocardial creatine are a hallmark of the failing heart, leading to the widely held view that creatine is important at high workloads and under conditions o...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Heart
سال: 2010
ISSN: 1355-6037
DOI: 10.1136/hrt.2009.191049b