Mount Sinai Health System
Search
Profile image of Sander Houten

    Sander Houten, PhD

    Education

    MSc, University of Amsterdam

    PhD, University of Amsterdam

    Awards

    2017

    Science Award: Dutch Society for Clinical Chemistry

    Dutch Society for Clinical Chemistry

    2014

    SSIEM Award: Society for the Study of Inborn Errors of Metabolism

    Society for the Study of Inborn Errors of Metabolism

    2010

    Founders' Award (Neil Buist Award): Society for Inherited Metabolic Disorders

    Society for Inherited Metabolic Disorders

    2004

    Wadman – Van Gennip Award: Dutch Society for the Study of Inborn Errors of Metabolism

    Dutch Society for the Study of Inborn Errors of Metabolism

    Research

    Mitochondrial fatty acid beta-oxidation (FAO) plays a crucial role in energy homeostasis of organs such as liver, heart and skeletal muscle. During fasting when glucose supply becomes limited, FAO is a vital energy source. For most FAO enzymes, a recessively inherited defect is known, leading to an overall high cumulative incidence (~1 in 10,000). Typical clinical features of these FAO defects are fasting-induced hypoketotic hypoglycemia, and cardiac and skeletal myopathy. Many countries have included FAO defects in their expanded neonatal screening programs. The main reason for screening is the life-threatening hypoglycemia that can lead to coma or sudden death, but can be prevented by avoidance of fasting. The treatment opportunities for (cardio)myopathy are suboptimal and new developments are hampered by a lack of fundamental insight into the consequences of a FAO defect. The goal of this research line is to define the pathogenetic mechanisms that underlie the various symptoms of FAO defects and to design rational therapeutic strategies for patients affected with FAO defects.