Fatty Oxidation Disorders (FODs) are genetic metabolic deficiencies in which the body is unable to oxidize (breakdown) fatty acids to make energy because an enzyme is either missing or not working correctly. The main source of energy for the body is a sugar called glucose. Normally when the glucose runs out, fat is broken down into energy. However, that energy is not readily available to children and adults with an FOD. When diagnosed and treated AT BIRTH the prognosis for most of the FODs (i.e., MCAD etc) is excellent. Most can make adjustments to diet/meds when necessary during times of extra activity and illness and lead a full life. However, if undiagnosed and untreated, these disorders can lead to serious complications affecting the liver, heart, eyes and general muscle development, and possibly death.

[Important Note to New Families from Deb (FOD Director): Because Kevin was diagnosed (MCAD) and treated from BIRTH, he is now an active, healthy and thriving college graduate ~ so one CAN live with an FOD! There may be various challenges along the way for some individuals with FODs (ie., especially if diagnosed late, after a severe crisis, etc) but Knowing you have an FOD and how to treat on a daily basis and in an emergency is the KEY...we didn't have that opportunity with Kristen ~ so to those states/countries that don't 'get it' yet ~ get onboard with universal expanded and comprehensive Newborn Screening  and save babies' lives!]

Symptoms
There is a wide variation in presentation of FODs, even within the same family. Not every individual responds to a disorder in the same way. Some may be without major symptoms, yet others may have chronic bouts of low blood sugar leading to many hospitalizations, especially during the 1st years of life.

[Please note, however, that blood glucose levels should not be TOTALLY relied on as the ONLY indicator of a possible 'crisis.' Do NOT compare FODs to diabetes! Changes in behavior, irritability, lethargy, and blood levels such as ammonia, liver enzyme and cp(cpk) should also be monitored]. An emergency situation exists when a "metabolic crisis" occurs. A crisis is often preceded by a period of fasting, possibly due to an ear infection or flu. Other symptoms may include vomiting, diarrhea, lethargy (very sleepy), seizures, coma and difficulty breathing. Awareness of how to diagnose and treat these disorders is vital because during a metabolic crisis, an undiagnosed individual may experience excessive buildup of fat in the liver, heart and kidneys, along with some brain swelling—all of which can lead to death. Those deaths have sometimes been misdiagnosed as SIDS (Sudden Infant Death Syndrome) or Reye's Syndrome.

[Please Note: A very shamefully sad and disturbing ramification of searching for a diagnosis (for some Families it's been YEARS), is having to endure false allegations of munchausen's syndrome by proxy ~ metabolic and mitochondrial disorders are very complex to diagnose at times and Families (specifically Moms) should NOT have to face these types of FALSE accusations! Please read comments sent to me (from a Support Group that has had over a dozen parents falsely accused of MSBP) in regard to the so-called 'perpetrator profile.' I have spoken to at least 15 Families about actual allegations and threats of allegations. If you have been victimized and traumatized by these FALSE ACCUSATIONS contact Groups that understand what your Family is shamefully going through!]

FODs Addressed On This Site

• Carnitine Transport Defect (Primary Carnitine Deficiency)
• Carnitine-Acylcarnitine Translocase Deficiency (Translocase)
• Carnitine Palmitoyl Transferase I & II (CPT I & II) Deficiency
• Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
• Long Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency
• Trifunctional Protein (TFP) Deficiency
• Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
• 2,4 Dienoyl-CoA Reductase Deficiency
• Short Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency
• Short Chain L-3-Hydroxyacyl-CoA Dehydrogenase (SCHAD) Deficiency (now called 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (HADH)
• Electron Transfer Flavoprotein (ETF) Dehydrogenase Deficiency (GAII & MADD)
• 3-Hydroxy-3 Methylglutaryl-CoA Lyase Deficiency (HMG)
• Unclassified FODs

Diagnosis & Treatment
Fatty Oxidation Disorders are autosomal recessive disorders affecting both males and females. Both parents are carriers of an abnormal gene, in that when two abnormal genes unite the child will have an FOD. There is a 25% chance that each child will have an FOD and a 75% chance of being a carrier or not having the disorder at all. If one child is diagnosed with an FOD, their siblings should also be tested, even if they are asymptomatic.

These disorders are diagnosed in a variety of ways at specialized labs across the country. Blood, urine, skin fibroblasts, amniocytes (from amniotic fluid) and muscle and liver tissue are some of the specimens analyzed. The diagnostic tests often include an acylcarnitine profile, urine organic acid analysis, carnitine levels and enzyme assays in fibroblasts. The acylcarnitine profile with whole blood on a 'PKU card' (filter paper card) is the most direct approach for diagnosis of most of the FODs. Molecular DNA testing is also available but only for the common mutations of MCAD and LCHAD at this time. It is often recommended for both MCAD and LCHAD to test the PKU card with whole blood by simultaneously analyzing the acylcarnitine profile and DNA mutation.

Treatment for FODs is multidimensional. A major concern is to avoid going without food/calories for beyond 8-12 hours (i.e., an overnight sleep for a child or adult, when well.) It is strongly recommended, however, for infants under age 6 months, they should be fed around the clock every 2-4 hrs. Most children/adults with an FOD eat often throughout their waking hours (i.e., every 3-6 hrs) ~ the interval depends on various factors and their specific circumstances, such as if they are ill versus well, in which case they most likely would try to eat/drink more often around the clock. Please note that fasting times can vary from person to person within the different disorders. A fasting state, especially while ill, can trigger a "metabolic crisis" leading to lethargy and hospitalization.

If hospitalized, it is imperative, according to FOD specialists, that a 10% glucose IV (5% is NOT enough) is started immediately following blood chemistry samplings ~ waiting hours for the results before putting in the IV can be fatal when an FOD child/adult is in crisis. The 10% dextrose/glucose gives NEEDED FUEL to the brain and body that normal saline IV cannot provide. Also note that even though the child/adult may appear to be hydrated, it does NOT mean they are not heading toward a crisis ~ they may have fluids onboard, but they NEED CALORIES to help them prevent and/or get through a metabolic crisis/stress.

Too many children/adults have been sent home from the ER because they didn't LOOK sick ~ those with FODs do not have any kind of 'look' so INSIST that the blood and urine chemistries are done to determine what is going on INSIDE their bodies!

URGENT Info for Emergency Room Personnel and others :

When FOD Families call 911 or come into an ER please FOLLOW the EMERGENCY PROTOCOL LETTER IMMEDIATELY that their specialist has given them and LISTEN to the PARENTS or FOD Adult ! We are having our Families thrust into BEREAVEMENT all because someone CHOOSES to BLATANTLY DISREGARD the Protocol and send Families home because their child/adult 'looks' okay or they think the blood sugar is sufficient!! DO NOT ASSUME you know how to treat FODs, especially if you have never treated an FOD individual in crisis ~ it is NOT treated like diabetes! FOLLOW THE PROTOCOL that their specialist has individualized specifically for them! We are NEEDLESSLY burying too many children because of arrogance, ignorance, and downright negligence!

[From our FOD Experts] A plasma glucose in the "normal range" does not mean it is safe to skip a D10 bolus if a medical protocol instructs that a bolus is necessary. When a patient is ill, some FODs require a glucose infusion even in the face of a glucose level that is normal or near normal as toxic metabolites can still accumulate.  Sometimes only a glucose bolus will reset the metabolic "thermostat" which regulates breakdown of endogenous (stored) fat. If a physician has concerns about a glucose bolus for a sick FOD patient based on a normal/near normal plasma glucose level, the answer is NOT to ignore the protocol. The patient's treating metabolic physician must be consulted immediately or, if unavailable, another metabolic physician should be paged. For many FODs, it is much easier to deal with transient hyperglycemia than the consequences of continued decompensation.

[Note: Specialists also advise to Avoid fat binding/producing anesthetics, lactated ringers, long term use of steroids, and products that contain aspirin or salicylates. These can cause possible complications.]

Several snacks and meals of lowfat/high carbohydrate foods ~ such as cereal, pasta, and other complex carbohydrates (as well as sugar drinks when not well) ~ are recommended throughout the day. Additionally, some families use various supplements (i.e., riboflavin, coQ10) and MCT Oil (not used for all FODs, especially MCAD and SCAD, since the medium chain triglycerides cannot be broken down). Infants under six months or so should continue to have at least one night feeding/snack as they should not go 10-12 hours without eating. If the FOD child/adult has experienced hypoglycemia (even with frequent meals), in order to help decrease the frequency of low blood sugar in the morning, some find it helpful to mix in 1-3 tablespoons of raw corn starch (i.e. Argo) to a cold sugar-free liquid or food at night ~ be aware that too much corn starch can be constipating for some individuals. Please also note that cornstarch is NOT recommended for children under one year of age because they often lack the necessary pancreatic amylase to digest the cornstarch. Cornstarch can also be very hard on teeth ~ so be sure to brush after eating/drinking the cornstarch.

Some physicians prescribe the FDA-approved drug Carnitor® (manufactured by Sigma-Tau Pharmaceuticals, Inc.) as an L-carnitine supplement for several FODs, especially if carnitine deficiency is a secondary disorder. [Please note: There is now an FDA-approved generic form of l-carnitine (levocarnitine) along with the brand name Carnitor®.] Although carnitine is made within the body, sometimes supplementation is necessary. L-carnitine helps the body's metabolism run smoothly. It is useful in preventing low blood sugar and assists in removing metabolic wastes from the cells so a buildup of toxins will not occur. Please note that the health food store carnitine is NOT the same as the prescribed drug Carnitor®, (or the prescription generic drug form) and using it in place of the prescribed drug may be dangerous.

As with any medical condition, discussing treatment options with your physician(s) and FOD specialists is necessary for the well-being of anyone with an FOD. Please do not make any changes in your child's or your own treatment without first consulting with your physician(s).

Emergency Protocol Letter Examples
MCAD Letter for Infants & Children (PDF*)
MCAD Letter for Teens & Adults (PDF*)
LCHAD version 1 (PDF*)
LCHAD version 2 (PDF*)
VLCAD version 1 (PDF*)
VLCAD version 2 (PDF*)
Unclassified FOD (PDF*)

Please be aware that the above Protocol Letters are just EXAMPLES that some of our Families have shared with our Group. It is important that you INDIVIDUALIZE your/your child's protocol sheet in conjunction with your physicians and other professionals. Please also refer to the URGENT INFO posted above for Emergency Room personnel.

Please Note for Downloading and Saving PDF Files: If you already have Adobe Acrobat Reader (download FREE from our Online Forms page), double click the name of the PDF* file in order to open it and read online. However, if you double click and a blank screen comes up, please click on your browser's refresh button. If it is still blank, try saving the PDF* to your computer to view offline by RIGHT clicking on the document name, and save it to your desktop/computer by choosing 'Save Target As' and following the directions.

Labs that perform Supplemental and/or Comprehensive Newborn Screening (for individuals, hospital systems and states) and FOD Diagnostic Testing

[Note: This may not be a complete listing. Please contact Labs on either list for specific details of which FODs are tested and if consultation with physicians and/or on-site patient clinical evaluation is available for infants, children and adults seeking a diagnosis. Families ~ please be aware that the staff at these Labs are here to HELP us, but they cannot make a diagnosis over the phone ~ so PLEASE be patient and work through your physicians to get the correct testing needed for yourself or your child. Also note that although the expanded NBS test may detect several FODs, as well as many other metabolic disorders, the expanded NBS test is DIFFERENT than the diagnostic Acylcarnitine Profile test that is used to specifically diagnose FODs. You can also inquire about what other tests might be suggested (i.e. plasma carnitine levels, urine organic acids, DNA testing)and types of specimens needed (i.e. skin or muscle biopsy, amniocytes, postmortem tissues) to further assist in the diagnostic evaluation of FODs. Please also refer to our Medical Information page and the Diagnostic article by Dr Charles Roe.]

Institute of Metabolic Disease (Dallas, TX)
Phone: (800) 4-BAYLOR for Supplemental NBS testing
Phone: (214) 820-4533 for Diagnostic testing if child or adult is symptomatic/ Consultation/Current FOD Research Studies
Fax: (214) 820-4853
Charles Roe, MD, Director of Clinical Investigations and Co-Director of Mass Spec Lab
Email: charlesr@baylorhealth.edu
Raphael Schiffmann, MD, Medical Director

Larry Sweetman, PhD, Mass Spec Lab Director
Email: larrys@baylorhealth.edu

Xiaowei Fu, MD, PhD, Assistant Lab Director

Email: xiaoweif@baylorhealth.edu
Website: Websites:
http://www.baylorhealth.com/medicalspecialties/metabolic/
http://www.baylorhealth.edu/imd/Default.htm

Mayo Medical Laboratories (Rochester, MN)
Mayo Clinic Biochemical Genetics Laboratory

Phone: (800) 533-1710 for NBS testing, Diagnostic testing, Consultation, Post-mortem testing
Fax: (507) 284-1759
Co-Directors:

Dimitar Gavrilov, MD, PhD, FACMG gavrilov.dimitar@mayo.edu

Dietrich Matern, MD, FACMG matern@mayo.edu 
Devin Oglesbee, PhD, FACMG oglesbee.devin@mayo.edu

Kimiyo Raymond, MD raymond.kimiyo@mayo.edu

Piero Rinaldo, MD, PhD, FACMG rinaldo@mayo.edu

Silvia Tortorelli, MD, PhD, FACMG tortorelli.silvia@mayo.edu

Lab Website: http://www.mayoclinic.org/laboratorygenetics-rst/biochemical.html

NBS Website: http://www.mayomedicallaboratories.com/articles/

newborn/index.html

Please note that approximately 35 disorders of fatty acid,

amino acid, and organic acid metabolism are included in the Supplemental Newborn Screen (SNS). Your physician, hospital, or hospital laboratory must arrange for SNS testing, including

requesting screening cards and submitting samples to Mayo.

Mayo is unable to accept specimens directly from patients or families. Mayo works directly with health care providers and laboratories who may contact Mayo to arrange for SNS testing for their patients by calling 1-800-533-1710.

Metabolism Clinic Appointments for patients who wish to be seen in consultation at Mayo Clinic

Dimitar Gavrilov, MD, PhD, FACMG

Appointments: (507) 284-8198

Fax: 507-284-1067

[Please note: Self-referrals are accepted at Mayo, however, we cannot make specific clinical recommendations prior to evaluating

you or your child. It is very helpful to have your primary physician contact us and send a referral summary and relevant laboratory reports. With this information, we may

be able to provide your physician with some guidance if necessary prior to your evaluation.]

Labs that perform FOD Diagnostic Testing, Research and/or Consultation

[Note: Each Lab has their own procedures for diagnostic testing and which specific FODs may be tested, researched, and/or clinically treated. Some Labs only perform diagnostics, but others may offer onsite clinical evaluation/treatment (and possibly emergency phone consultation) by physicians experienced with FODs. Please have your physician contact the specific Lab to determine what services they can provide.]

New England Medical Center - Metabolic Disorders Clinic
(Boston, MA)
Mark Korson, MD, Associate Professor of Pediatrics MKorson@tufts-nemc.org
Phone: (617) 636-5454

Fax: (617) 636-0745

[The clinic follows over 1000 patients living with metabolic and mitochondrial disorders and the clinic is a New England regional newborn screening program referral treatment center. Dr Korson is developing a Metabolic outreach service to help educate community health care providers about metabolic disorders and the staff will also be developing a curriculum for a metabolic dietitian's training program.]

Keiko Ueda, MPH, RD, LDN, Metabolic Dietician

KUeda@tufts-nemc.org

Abigail Usen, MS, RD, LDN, Metabolic Dietitian

Phone: (617) 636-5454

Cheryl Garganta, MD, PhD, Director, Amino Acid Lab

Phone: (617) 636-7919

Website:
http://www.nemc.org/home/departments/pedi/pedimet.htm

Children's Hospital of Pittsburgh (Pittsburgh, PA)
Medical Genetics - Metabolic Clinic and follow up for abnormal NBS

Phone: (412) 692-8631
Jerry Vockley, MD, PhD, Division Chief

Pim Suwannarat, MD, Director, Inborn Errors of Metabolism Clinic
(*Families please contact Karen Lewis and not Drs Vockley or Suwannarat)

Elizabeth (Jenkins) McCracken, MS, CGC

Phone: (412) 692-5662  

Nicole (Walters) Payne, RD Metabolic Dietitian
Phone: (412) 692-5099

Nicole.Payne@chp.edu

Cincinnati Children's Research Foundation (Cincinnati, OH)

Arnold W. Strauss, MD, Director

arnold.strauss@cchmc.org
Rachford Professor and Chair of Pediatrics
University of Cincinnati College of Medicine
3333 Burnet Avenue, MLC 3016
Cincinnati, OH  45229
Molecular Genetics Lab Phone: (513) 636-4474
Dr Strauss Fax:  513 636-0345
   Clare Douglas, Sr. Executive Assistant

   Phone: *(513) 636-2942
   clare.douglas@cchmc.org

MCAD and VLCAD Molecular Testing Now Available ~

Cincinnati Children’s Molecular Genetics Laboratory Offers Molecular Diagnosis for MCAD and VLCAD:   

The Laboratory’s team of board certified molecular geneticists and genetic counselors is pleased to join forces with Dr. Arnold Strauss, formerly of Vanderbilt University, to provide state of the art molecular genetic testing and comprehensive interpretation of test results for medium chain acyl Co-A dehydrogenase deficiency (MCAD) and very long chain acyl Co-A dehydrogenase deficiency (VLCAD). 

PCR-based sequencing of the ACAMD or ACADVL gene can be used to identify mutations in:

• Patients with clinical symptoms consistent with VLCAD or MCAD,
• Asymptomatic infants with an abnormal newborn screen test result,
• Individuals with an abnormal acyl carnitine profile consistent with MCAD or VLCAD,
• Presymptomatic diagnosis in at-risk siblings of a patient with MCAD or VLCAD,
• Carrier testing of parents and relatives of patient with MCAD or VLCAD,
• Prenatal diagnosis in a pregnancy at risk for MCAD or VLCAD.

        We provide:

• Detailed clinical interpretations by a team of experts in molecular diagnostics, clinical care and genetic counseling,
• Rapid turn-around times,
• Competitive costs,
• Commercial, institutional and Medicaid billing options,  
• Responsive customer support,
• CLIA and CAP certified laboratory.

We are very excited to be working with Dr. Strauss to bring these clinical tests to you and your patients. For further information, including test requisition, CPT codes, specimen requirements and shipping information, please visit the Molecular Genetics Laboratory or call at 513-636-4474 to speak with our customer service staff or a genetic counselor.  Billing inquiries can be addressed by calling 1-866-450-4198. 

Medical College of Wisconsin - Fatty Acid Oxidation Disorder Lab (Milwaukee, WI)
William Rhead, MD, PhD, Director
wrhead@mcw.edu
Phone: (414) 266-2979
Website:

http://www.chw.org/display/PPF/DocID/9972/router.asp

Vanderbilt University Medical Center - Division of Medical Genetics Clinic (Nashville, TN)
Treatment & Consultation for FODs
(Mutational analyses for MCAD, LCHAD, VLCAD and TFP)
Marshall Summar, MD
marshall.summar@mcmail.vanderbilt.edu
Phone: (615) 322-7601
Website: http://peds.mc.vanderbilt.edu/VCHWEB_1/Medical-Genetics.html
Lab phone: (615) 322-2678; (615) 322-2635

Duke University Medical Center - Biochemical Genetics Lab (Durham, NC)
Y.T. Chen, MD, PhD, Medical Director
David Millington, PhD, Technical and Onsite Director
dmilli@acpub.duke.edu
Phone: (919) 549-0445
Website: http://www.duke.edu/~mdfeezor/
dukemedicalgenetics/

Children's Medical Center of Dallas (TX) Metabolic Lab
Phone: (214) 456-2877
Stacy A. Miller, CGC
Website: Lab and Clinic site

The Robert Guthrie Biochemical Genetics Lab (Buffalo, NY)
Georgirene Vladutiu, PhD, Director
Phone: (716) 878-7513
Website: www.rgbgl.org

Metabolism Clinic, Children's Hospital Boston (MA)
Deborah Marsden, MBBS, Director
Phone: (617) 355-4695
deborah.marsden@tch.harvard.edu
Contact Person:Renee Charbonneau, Nurse Practitioner
Phone: (617) 355-2521
Website: http://web1.tch.harvard.edu/cfapps/CHprogDisplay.
cfm?Dept=Genetics&Prog=Metabolism%20Program

UCSD Biochemical Genetics Lab (San Diego, CA)
Bruce Barshop, MD, PhD bbarshop@ucsd.edu &
William Nyhan, MD, PhD wnyhan@ucsd.edu Co-Directors
Phone: (619) 294-6104
Website: http://biochemgen.ucsd.edu

Kennedy-Krieger Institute Clinical Mass Spectrometry Lab (Baltimore, MD)
Richard Kelley, MD, PhD, Director
Phone: (410) 502-9444
Website: www.med.jhu.edu/CMSL

The Clinic for Special Children (Lancaster County, PA)
D. Holmes Morton, MD, Clinic Director
Erik Puffenberger, PhD, Lab Director
Phone: (717) 687-9407
Website: http://www.clinicforspecialchildren.org

Metabolic Diagnostic Lab at Children's Hospital of Philadelphia (PA)
Michael Bennett, PhD, Director
Phone: (215) 590-3394
Website: http://www.chop.edu/consumer/jsp/division/generic.jsp?id=74645

Washington University at St. Louis (MO) - Molecular Diagnostic Lab
Barbara Zehnbauer, PhD, Director
bzlab@imgate.wustl.edu
Phone: (314) 454-7053
Website: www.surgery.wustl.edu/bjcmdl

Oregon Health Sciences University - Biochemical Genetics Laboratory (Portland, OR)
Cary Harding, MD and Carolyn Sue Richards, PhD, Co-Directors
Phone: (503) 494-7703
Website: Lab site

Phone: (503) 494-5516
Website:Clinic and Services

Univ of California at San Francisco - Medical Genetics Clinic
For info: Kara Weisiger, Genetic Counselor
kweisiger@peds.ucsf.edu
Phone: (415) 476-2757

Univ of Colorado Health Sciences Center - Biochemical Genetics Lab (Denver, CO)
Stephen Goodman, MD & Johan Van Hove, MD, PhD, Directors
Phone: (303) 724-3826

Questions about CO Expanded NBS: Ask for Mike Woontner or Robert Binard
Website: www.uchsc.edu/sm/peds/bglab

Yale Biochemical Disease Detection Lab (New
Haven, CT)
Margretta Seashore, MD, Director

margretta.seashore@yale.edu
Phone: (203) 785-2662
Website: http://info.med.yale.edu/genetics/clinical

Tulane Human Genetics Program (New Orleans, LA)
For info: Kelly Jackson, MS, Certified Genetic Counselor
kejst4@tulane.edu
Phone: (504) 587-7680
Website: http://www.mcl.tulane.edu/departments/human_genetics

Univ of Missouri Health Care - Metabolic Genetics Clinic (Columbia, MO)
Richard Hillman, MD, Director, Metabolic Genetics
Dawn Peck, MS, Genetic Counselor, Coordinator, Metabolic Genetics Clinic peckda@health.missouri.edu
Phone: (573)884-5192
Website: www.genetics.missouri.edu

Massachusetts General Hospital - Amino Acid Disorder Laboratory (Boston, MA)
Vivian Shih, MD, Director vshih@partners.org
Phone: (617) 726-3884

The Hospital for Sick Children - Neurometabolic Clinic & Research Lab (Toronto, Canada)
Ingrid Tein, MD, Director tein@sickkids.ca
Phone: (416) 813-5041

Royal Manchester Children's Hospital - Willink Biochemical Genetics Unit (Manchester, UK)
J.E. Wraith, MD, Director ed@willink.demon.co.uk
Phone: 01 61 727 2137

Great Ormond Street Hospital for Children Metabolic Unit
(London, UK)
Diagnostic and Clinical services
Prof Peter Clayton P.Clayton@ich.ucl.ac.uk
Dr Stephanie Grunewald
Dr Maureen Cleary
Phone: +44 (0) 20 7405 9200 (Hospital - for contact or advice at any time)

University of Amsterdam (Holland) - Lab Genetic Metabolic Diseases
Prof Dr Ronald J A Wanders (diagnostic only) wanders@amc.uva.nl
Phone: 31 20 566 5958
Dr Frits A Wijburg (clinical treatment) f.a.wijburg@amc.uva.nl

The Children's Hospital Westmead (Sydney, Australia)
NSW Biochemical Genetics Lab
Diagnostic and Clinical services (NBS and Diagnostic)
Dr Bridget Wilcken bridgetw@chw.edu.au
Phone: +61 2 9845 3654
Website: http://www.chw.edu.au/prof/services/biogen/
NBS services http://www.chw.edu.au/prof/services/newborn/
Phone: +61 2 9845 3659

Women's and Childrens' Hospital (Adelaide, Australia)
Clinical services (NBS and Diagnostic)
Dr Janice Fletcher janice.fletcher@adelaide.edu.au
Diagnostic services Enzo Ranieri enzo.ranieri@adelaide.edu.au
Phone: +61 8 8161 7295
Website: http://www.health.adelaide.edu.au/NRL/nrl.htm

Please send corrections to deb@fodsupport.org