Anemia Metabolite Laboratory
We offer a CLIA-certified quantitative assay for methylmalonic acid, methylcitric acid, homocysteine and cystathionine.
Our research involves the anemias and other disorders resulting from perturbations in folate, vitamin B12, and methionine metabolism, which fits nicely with the clinical disorders Dr. Stabler sees at the hospital.
Since the mid-1980’s, our laboratory, in collaboration with Dr. Robert H. Allen has investigated many aspects of folate and vitamin B12 metabolism, especially the role of elevated methylmalonic acid and homocysteine in specific and sensitive diagnosis of these disorders.
Our CLIA-certified laboratory offers some metabolites that are not available elsewhere, which helps in the diagnosis of rare inborn errors and in the investigation of animal models of these inborn errors.
During the process of these investigations we developed highly sensitive and specific assays for most of the molecules involved in methionine metabolism, and we continue to collaborate with many investigators in providing these assays.
Our CLIA-certified laboratory offers some metabolites that are not available elsewhere, which helps in the diagnosis of rare inborn errors and in the investigation of animal models of these inborn errors. A number of children’s hospital metabolic units send samples for these metabolites.
We currently perform the metabolites for an investigator who is studying methylmalonic acidemia and another who is studying all aspects of cystathionine beta-synthase deficiency (classical homocystinuria) and cystathionase deficiency as well as other disorders of methionine metabolism.
Our CLIA-certified laboratory offers some metabolites that are not available elsewhere, which helps in the diagnosis of rare inborn errors and in the investigation of animal models of these inborn errors. A number of children’s hospital metabolic units send samples for these metabolites.
We currently perform the metabolites for an investigator who is studying methylmalonic acidemia and another who is studying all aspects of cystathionine beta-synthase deficiency (classical homocystinuria) and cystathionase deficiency as well as other disorders of methionine metabolism.
We have also recently developed assays for the volatile fatty acids which are of great interest in the study of the microbiome particularly as to their presence as protective metabolites in the gut. We will continue to develop small molecule metabolite assays as requested by other researchers and we will offer these assays to the investigators at the Medical School and the wider community.
Sally Stabler, MD
Professor
Dr. Stabler has had an NIH and endowment-funded research laboratory during the last 33 years, is the co-inventor on nine patents dealing with diagnosis and treatment of folate and vitamin B12 deficiency, and is the author of more than 200 peer-reviewed manuscripts, book chapters and review articles.