1. Articles on metabolism


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

  • Confirmation of ACER3-related recessive neurodegeneration

    Learn more about our recent findings in confirmation of ACER3-related recessive neurodegeneration, and preliminary evidence for feasibility of biochemistry-based ACER3 variant classification.

  • Familial hypercholesterolemia panel

    Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by severe elevations in total cholesterol and low-density lipoprotein cholesterol levels that lead to atherosclerotic plaque deposition in the coronary arteries and proximal aorta at an early age, leading to an…

  • Obesity gene panel

    Obesity is an increasingly common complex condition caused by several genetic and non-genetic risk factors and it is correlated with increased risks for diabetes type 2, heart diseases and cancers. It is a neuroendocrine condition caused by combined effects of both environmental and genetic risk…

  • Rapid intravenous enzyme infusion

    In the latest issue of American Journal of Hematology, we have published results of recent collaborative study on development of enzyme replacement therapies in Gaucher disease type 1. Together with colleagues from University Rostock, Israel and Australia, we tested effects of rapid intravenous…

  • Maple syrup urine disease gene panel

    Maple syrup urine disease (MSUD) is an inherited metabolic disorder characterized by the distinctive sweet odor of the affected infants’ urine. MSUD is caused by the deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKAD), causing abnormal accumulation of the branched-chain…