Fatty Acid Oxidation Disorder Laboratory

Dear Colleagues:                                                

These are the  diagnostic services available in the Fatty Acid Oxidation Disorder Laboratory at the Medical College of Wisconsin and Children’s Hospital of Wisconsin.  For almost 18 years, we have offered these services to geneticists, endocrinologists, gastroenterologists and neurologists around the country.  Using radioHPLC, we can now define the characteristic diagnostic profiles of accumulated fatty acyl-carnitines in cultured fibroblasts from affected patients and can also detect isovaleric acidemia, all subtypes of propionic and methylmalonic acidemias and β-ketothiolase deficiency.  At present, we offer β-oxidation enzyme immunoblotting in fibroblasts, liver and other tissues for many of the polypeptides involved in the β-oxidation spiral.  We have also performed many successful prenatal diagnoses for these disorders in cultured amniocytes.  The unique panel of diagnostic tests we offer is summarized below.

My group also collaborates closely with other major North American, European, Japanese and Australasian academic groups concerned with the diagnosis, treatment, and investigation of fatty acid oxidation disorders.  I am board certified in Clinical Biochemical Genetics and Clinical Genetics and the laboratory is accredited by CAP, JCAHO and registered under CLIA.  Please call, e-mail or fax me if you want additional testing information or wish to discuss individual patients.

William J. Rhead, MD PhD
Genetics Section Chief, Professor of Pediatrics
E-mail: wrhead@mcw.edu  Phone: 414-266-2906; Fax: 414-266-1616

DIAGNOSTIC TESTS: