Metabolic diseases can have severe consequences unless diagnosed and treated as soon as possible. Genetic testing permits the earliest possible detection and treatment of affected individuals, even in newborns, and can prevent morbidity, mortality, and disabilities associated with inherited metabolic disorders.
Articles on metabolism
Join our next webinar on January 31, 2017; 4pm - 5pm.
CentoWebinar on demand - CentoICU®: NGS panels for the early and fast diagnosis of critically ill newborns & children under 24 months
Genetic disorders are diseases with the most complex presentation of the most diverse symptoms and also the most severe disease courses. A precise diagnosis of the underlying condition is especially important in serious and life threatening situations as found in the intensive care setting.
Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia
Adenosylcobalamin (vitamin B12) is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this enzyme are a cause of methylmalonic acidemia (MMA). Methylmalonic acidemia, cblA type, is an inborn error of vitamin B12 metabolism that occurs due to mutations in the MMAA gene. MMAA…
Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease
The aim of the present study was to assess manifestations of and applied treatment concepts for females with Fabry disease (FD) according to the current European Fabry Guidelines. Between 10/2008 and 12/2014, data from the most recent visit of 261 adult female FD patients from six German Fabry…
Fabry disease (FD) is a rare, X-linked lysosomal storage disorder affecting hemizygous males and heterozygous females. The intracellular storage affects different organ systems, causing severe alteration. The aim of the present study was to evaluate the diagnostic value of cTnI using a…