Pediatrics: Genetics

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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:                                                              Diagnostic                     Immunoblotting:
(abbreviation)                                                                      RadioHPLC                                                 
                                                                                              Profile:

Acyl-CoA Dehydrogenases (ACD):

  Short-chain (SCAD): 3-Hydroxy Short Chain (SCHAD             yes                                           yes (SCAD)

  Medium-chain (MCAS)                                                         yes                                           yes

  Very-Long-Chain (VLCAD); Long Chain (LCAD)                      yes                                           yes

  3-Hydroxy-Long-Chain (LCAHD)                                           yes                                           not available

 

Glutaric Acidemia, Type II (GA-II):

  Electron-Transfer Flavoprotein (ETF)                                     yes                                           yes

  Electron-Transfer Flavoprotein

  Dehydrogenase (ETFDH; ETF-QQ)                                         yes                                           not available

 

Trifunctional Protein (TFP)                                                      yes                                           not available

 

Carnitine Palmitoyl Transferases, I and II                               yes                                           not available

(CPT-I and II)

 

Carnitine Uptake Defect (CUD);                                              yes                                           not available

  Systemic Carnitine Deficiency

 

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

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Page Updated 06/13/2014