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
Fanconi Anemia (FA) is a rare inherited chromosome breakage syndrome characterized by physical abnormalities, bone marrow failure, and an increased risk of development of various malignancies. FA is the most common genetic cause of aplastic anemia and is one of the most common genetic causes of…
CentoWebinar on demand - A race against the clock - Diagnosing genetic conditions in newborns and children
Up to one third of all babies and children admitted to the intensive care unit (ICU) have a genetic disease. For many of them early identification can make a difference for their immediate and later health.
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…