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

    Glutaric aciduria type 1 (GA1) is an autosomal recessive inborn error of lysine degradation. Patients can present with brain atrophy and macrocephaly and may develop dystonia after acute encephalopathic crises that lead to striatal degeneration. These crises typically occur in the first year of life and are often triggered by a catabolic state such as those that occur during childhood illnesses. GA1 is caused by a defect of glutaryl-CoA dehydrogenase (GCDH) leading to the accumulation of glutaryl-CoA, glutaric acid and 3-hydroxyglutaric acid, which is thought to be neurotoxic. GA1 is rare (~1 in 100,000), but occurs frequently in some communities and ethnic groups such as the Amish, Ojibwe and Lumbee Indigenous peoples, and black South Africans. GA1 patients benefit from early intervention and the disorder is therefore included in newborn screening programs in many countries including the US. The goal of this research line is to improve current treatment by developing substrate reduction therapy.