Pediatrics: Genetics

EmailEmail    |   Bookmark Page Bookmark  |   RSS Feeds RSS  |   Print Page Print  

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 radio-HPLC, we can now define the characteristic diagnostic profiles of accumulated fatty acylcarnitines 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
Professor of Pediatrics
E-mail: wrhead@mcw.edu  Phone: 414-266-2906; Fax: 414-266-1616

DIAGNOSTIC TESTS: (PDF list)
 

Enzyme Deficiency:
(Abbreviation)
Diagnostic RadioHPLC Profile:
Immunoblotting:
Acyl-CoA Dehydrogenases (ACD):
   Short-Chain (SCAD); 3-Hydroxy Short Chain (SCHAD)
   Medium-Chain (MCAD)
   Very-Long-Chain (VLCAD); Long-Chain (LCAD)
   3-Hydroxy-Long-Chain (LCHAD)
 

yes
yes
yes
yes

yes (SCAD)
yes
yes
not available

Glutaric Acidemia, Type II (GA-II):
     Electron-Transfer Flavoprotein (ETF)
     Electron-Transfer Flavoprotein
     Dehydrogenase (ETFDH; ETF-QO)
 
yes

yes
yes

not available
Trifunctional Protein (TFP) yes not available
Carnitine Palmitoyl Transferases, I and II
(CPT-I and -II)
yes not available
Carnitine Acyl-Carnitine Translocase (CACT) yes not available
Carnitine Uptake Defect (CUD);
Systemic Carnitine Deficiency
yes not available
Methylmalonic and Propionic Acidemias, ALL subtypes yes not available
β-Ketothiolase yes not available
Isovaleryl-CoA dehydrogenase (IVA) yes not available

 

                                                                                                          

Fatty Acid Oxidation Disorder Laboratory

Contact Us

For clinical advice or questions, please contact Dr. William Rhead at 414-266-2906 or email at wrhead@mcw.edu Secondary contact is Kathleen Grande at 414-266-2979 or email at kgrande@mcw.edu

Hours of Operation and Certification

Certification of the Fatty Acid Oxidation Disorder Laboratory, This is a testing site for suspected metabolic disorders, William J Rhead MD is the director of the lab, FAOD, Medical College of Wisconsin

Requisition Form and Billing Information

Please download the PDF Requisition form and include in the shipment of the skin fibroblasts, Fatty Acid Oxidation Disorder Laboratory is a testing site for suspected metabolic disorders, William J Rhead MD is the director of the lab, FAOD, Medical College of Wisconsin

Shipping Instructions, Pricing and CPT Codes

Ship two T-25 (25cm2) flasks of confluent fibroblasts obtained from skin biopsy and routine fibroblast tissue culture to the above address by overnight express accompanied by clinical and biochemical data and the billing information sheet, Fatty Acid Oxidation Disorder Laboratory is a testing site for suspected metabolic disorders. William J Rhead MD is the director of the lab, Shipping Instructions, Pricing and CPT Codes, FAOD, Medical College of Wisconsin

webmaster@mcw.edu
© 2014 Medical College of Wisconsin
Page Updated 04/08/2014