Receiving a diagnosis for a rare genetic metabolic deficiency can be very frightening for a family, especially if they know nothing about the disorder. Gaining information about an FOD is a positive step toward easing some of that fear ~ you have to know what you're dealing with medically before you can put all other ramifications in perspective. It IS possible to live a long and healthy life with an FOD ~ the KEY is diagnosing/treating it as early as possible ~ and with FODs now being screened for at BIRTH in many states/countries, more and more babies' lives are being saved!

Although each FOD child/adult, even within the same family, can respond and present differently with a particular disorder, there are some similarities among all the FODs. We hope that by reading this section it will help you begin to understand how an FOD affects the body metabolically, the current treatment procedures, the ongoing research studies available to FOD families, as well as some of the other life issues that impact an affected family. [Please note that FODs are NOT the same type of disorders as Adrenoleukodystrophy (ALD - even though they also involve fatty acids as do the FODs), which is often associated with 'Lorenzo's Oil.'  FODs are highly treatable versus the extremely difficult to treat and invariably fatal forms of adrenoleukodystrophies.]

Professionals ~ we are always seeking family-friendly articles on all of the FODs, so if you would like to contribute your knowledge and expertise, PLEASE do! Additionally, in order to provide our Families with updated and more specific information on whether you test for/diagnose, treat, and/or research FODs, please complete and email or mail our one-page Professional Questionnaire for FOD Referral Purposes. Even if you are already listed on our printed Professional List, we would appreciate your help in updating our files.

URGENT NEED for Medical Professionals ~ With more Families around the world being identified with an inborn error of metabolism our Families will need both Short and Long term Clinical Follow-up Care (possibly through Regional Metabolic Collaboration Centers) from knowledgeable and caring professionals. In addition to our Expanded Newborn Screening Advocacy, our Group is hoping to bring awareness to medical schools and other medical organizations and facilities the need for educating and training new Professionals (physicians, metabolic nutritionists, etc) in the field of Medical Genetics and Metabolism to treat our children, as well as our FOD adults.  

One of our main Fundraising goals is to seek donations in order to eventually offer grants to Clinical and Research Centers (US only) for FOD Clinical Training (physicians, metabolic nutritionists etc) and FOD Research. We have a PayPal link on our home page if you wish to donate to either of these Funds.

We NEED your help NOW and in the FUTURE so our children will thrive and grow into adulthood with the best of ongoing care!

Description of Disorders

• MCAD Information for Families
• MCAD Information for Clinicians
• MCAD-GeneReviews
• MCAD Study Summary
• MCAD: Genetics Home Reference
• Understanding the MCAD gene: Genetics Home Reference
• Pacific NW Regional Genetics Group ~ MCAD Guide for Parents (PDF*)
• LCHAD: Genetics Home Reference
• LCHAD/FODs and HELLP Syndrome in pregnancy(PDF*)
• Rhabdomyolysis (can occur with some FODs)
• Rhabdomyolysis
• LCHAD (article in 1995 FOD newsletter)
• Primary Carnitine Deficiency/Carnitine Transport Defect
• Primary Carnitine Deficiency: Genetics Home Reference
• Carnitine Palmitoyltransferase (CPT) I, Muscle
• Carnitine Palmitoyltransferase (CPT) I, Hepatic
• CPT 1A (liver): Genetics Home Reference
• CPT 1A: GeneReviews
• Carnitine Palmitoyltransferase (CPT) II
• CPT 2: Genetics Home Reference
• CPT I Learning Tutorial, (Case-based tutorial)
• CPT II Learning Tutorial, (Case-based tutorial)
• GA2/MADD Information
• Glutaric Acidemia II (GA2/MADD)
• GA2 Guide for Parents (PDF*)
• SCAD Information [and YES, SCAD is a REAL disorder despite some recent controversial theories!]
• SCAD: Genetics Home Reference
• HADH: Genetics Home Reference
• HADH Information (formerly called SCHAD)
• VLCAD Information
• VLCAD: Genetics Home Reference
• ACAD9 Deficiency: A New Inborn Error
• Carnitine-Acylcarnitine Translocase Deficiency Information
• HMG Deficiency Information
• Trifunctional Protein Deficiency Information
• TFP/LCHAD Information (PDF*)
• TFP: Genetics Home Reference
• Medium-chain ketoacyl-CoA thiolase deficiency(MCKAT)
• 2,4-Dienoyl-CoA Reductase Deficiency Information
• Parent Factsheets for 11 FODs screened for within expanded newborn screening
• Errors in Fatty acid Oxidation
• Genetics Home Reference: Various metabolic descriptions
• Myths and Facts about Mitochondrial Diseases
• Air Transportation links for Families in Need
• Anesthesia Concerns: Propofol Infusion Syndrome
• Anesthesia Concerns: Refer to umdf.org (recommended reading)
• Along with avoiding fat binding/delivery/producing anesthetics, FOD experts state to avoid lactated ringers, long term use of steroid meds, and aspirin. Each child/adult FOD emergency protocol should be individualized with other pertinent allergies, meds, etc and mitigating factors taken into account.
• Examples of Emergency FOD Protocol Letters - scroll to bottom of this page

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.

FOD Research Studies

• CPT II Research Study for Infants/Children and Adults
• FODs and Cholesterol Drugs Study
• DHA Supplementation - July 2005 Update
• Columbia University Study - Sept 2005 Update
• LCHAD Family Experience with Columbia Study
• Treatment Protocol for Inherited Disorders of Fat Oxidation - Institute of Metabolic Disease in Dallas
• Vanderbilt University Lab Research Update
• FODs and Pregnancy Research (PDF*)[see published article below]
• Fetal Fatty Acid Oxidation Defects and Maternal Liver Disease in Pregnancy
• Research Opportunity for FOD Families (PDF*)
• Long Chain FOD Study - Oregon (PDF*) [see published articles below]
• Metabolic control during exercise with and without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) defciency
• Effects of higher dietary protein intake on energy balance and metabolic control in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) defciency

Fat Oxidation Disorders Information for Clinicians

• Diagnostic Approach to Disorders of Fat Oxidation
• Acylcarnitine Analysis Using Tandem Mass Spectrometry: Reliability and Specificity
• Distinction between: Supplemental Newborn Screening for amino acids and acylcarnitines by tandem MS and Quantitative Acylcarnitine Profile by tandem MS for Patients with Clinical Symptoms
• Prenatal Diagnosis of Disorders of Fatty Acid Transport and Mitochondrial Oxidation (PDF*)

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

[Note: Website links are best opened using Internet Explorer ~ Firefox does not take you to the correct page at times. This may not be a complete listing, so use a search engine to find more contacts. 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 or 'red flag' several FODs, as well as many other metabolic disorders, the expanded Newborn Screen 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 Clinician/Diagnostic article above 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

Post-mortem testing - call for information
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

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:Metabolism and Genetic services

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

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/30648/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@vanderbilt.edu
Phone: (615) 322-7601
John Phillips III, MD, Director, Division of Medical Genetics
john.phillips@vanderbilt.edu
Lab phone: (615) 322-2678; (615) 322-2635
Website: http://www.vanderbiltchildrens.com/interior.php?mid=178

NBS:http://www.vanderbiltchildrens.com/interior.php?mid=1576

Phone: (615) 322-7601

Cleveland Clinic Foundation - Neurometabolism & Mitochondrial Disease (Cleveland, OH)
Clinical Treatment for FODs (testing is outsourced)
Marvin Natowicz, MD, PhD

Phone: (216) 445-5686

Bruce Cohen, MD

Phone: (216) 444-5559

Sumit Parikh, MD
Phone: (216) 444-1994 or 1-800-223-2273, ext. 45559

Website:

http://cms.clevelandclinic.org/neuroscience/body.cfm?id=864

Center for Inherited Disorders of Energy Metabolism

Case Western Reserve University (Cleveland, OH)

Douglas S. Kerr, MD, PhD, Director

Charles L. Hoppel, MD, Co-Director

Phone:(216) 844-1286

Email: cidem@case.edu

Website: http://www.case.edu/med/CIDEM/index.html

Duke University Medical Center - Biochemical Genetics Lab (Durham, NC)
Y.T. Chen, MD, PhD, Medical Director
David Millington, PhD, Technical and Onsite Director
milli014@mc.duke.edu
Phone: (919) 549-0445
Website:

http://medgenetics.pediatrics.duke.edu/modules/

services/index.php?id=1

The Robert Guthrie Biochemical Genetics Lab (Buffalo, NY)
Georgirene Vladutiu, PhD, Director
Phone: (716) 888-1379
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://www.childrenshospital.org/clinicalservices/

Site1889/mainpageS1889P0.html

UCSD Mitochondrial and Metabolic Disease Center (San Diego, CA)
William Nyhan, MD, PhD, Head, Biochemical Genetics

wnyhan@ucsd.edu

Bruce Barshop, MD, PhD, Co-Director, Biochemical Genetics Lab

bbarshop@ucsd.edu

Richard Haas, MD, Co-Director, MMDC

Robert K Naviaux, MD, PhD, Co-Director MMDC

Contact: Cristal Melendez, administrative assistant

Phone: 619-543-7800
Website: http://biochemgen.ucsd.edu/ucsdbg0.htm

Website: http://biochemgen.ucsd.edu/mmdc/brochure.htm

Website: http://biochemgen.ucsd.edu/mmdc/

Kennedy-Krieger Institute Clinical Mass Spectrometry Lab (Baltimore, MD)
Richard Kelley, MD, PhD, Director
Phone: (410) 502-9444
Website: Metabolism and Genetics

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

Michael J. Palmieri Metabolic Laboratory at (CHOP) Children's Hospital of Philadelphia (PA)
Michael J 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: Clinics 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

NBS Website: http://www.uchsc.edu/newbornscreening/contact.htm

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: Chris Dvorak, MS, Certified Genetic Counselor
cdvorak@tulane.edu
Phone: (504) 988-9836
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

Website: http://www.genetics.missouri.edu/labs.htm

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

Website: http://www.mgh.harvard.edu/aminoacidlab/

The Hospital for Sick Children - Genetic Metabolic Lab & Molecular Genetics Lab (Toronto, Canada)
Website: http://www.sickkids.ca/biochemistry/default.asp?

John Callhan, PhD, Director, Genetic Metabolic Laboratory

Contact: Ms.Susan Marcantonio, Administrative Coordinator

Phone: (416) 813-8599

Website: http://www.sickkids.ca/molecular/default.asp

Peter N. Ray, PhD, Director, Molecular Genetics Lab

Phone: (416) 813-6590 ( Leslie Steele, MSc)

Royal Manchester Children's Hospital - Willink Biochemical Biochemical Genetics Lab (Manchester, UK)
Dr. Guy Besley, Director,

Phone: 0161-922-2143

Consultant paediatricians: Dr. Ed Wraith,Dr. John Walter, and Dr Andrew Morris

Phone:0161-922-2137/8
Website: http://www.mangen.co.uk/biochemical-genetics.asp

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

Contact name: Susan Apter (0207405 9200 ext.5081)
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

Website:http://www.amc.nl/index.cfm?sid=731
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

Metabolic Clinical Centers

• US Metabolic Clinic Search
• International Metabolic Clinic Search
• New England Consortium of Metabolic Programs
• Metabolic Clinic Resource (not all inclusive) (PDF*)
• California Special Care Center Directory
• NIH Clinical Studies for Metabolic Disorders

Carnitine Information

• Carnitine Supplementation and VLCAD Deficiency
  
• Be On Alert! Major Differences Between the Drug Carnitor® and the Health Food Version of Carnitine!
  
• Carnitine Therapy for Fatty Acid Oxidation Defects

Medical Articles

• Metabolic control during exercise with and without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) defciency
• Effects of higher dietary protein intake on energy balance and metabolic control in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) defciency
• Fetal Fatty Acid Oxidation Defects and Maternal Liver Disease in Pregnancy
• Short-chain acyl CoA dehydrogenase gene mutation (319C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population
• Treatment of Cardiomyopathy and Rhabdomyolysis
  in Long-Chain Fat Oxidation Disorders Using an Anaplerotic Odd-Chain Triglyceride (PDF*)
• HELLP Syndrome (New England Journal of Medicine Article)
  HELLP Syndrome (Acute fatty liver during pregnancy)
  Death Caused by Perioperative Fasting and Sedation in a Child with Unrecognized VLCAD
  MCAD: Sudden and Unexpected Death of a 45-year-old Woman
  Newborn Screening: Special Report
• 5% of SIDS cases most likely caused by Fatty Oxidation Disorder (PDF*)
• Genetic Deficiency May Explain Sudden Infant Death Syndrome
• Diagnosis of VLCAD from an Infant's NBS Card (PDF*)
• Molecular and Phenotypic Heterogeneity in Mitochondrial Trifunctional Protein Deficiency Due To b-Subunit Mutations (PDF*)
• Human placenta metabolizes fatty acids: implications for fetal fatty acid oxidation disorders and maternal liver diseases (PDF*)
• MS/MS-Based Newborn and Family Screening Detects Asymptomatic Patients with Very-Long-Chain ACYL-COA Dehydrogenase Deficiency (PDF*)
• Very-Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency in Mice (PDF*)
• General Mitochondrial Trifunctional Protein (TFP) Deficiency as a Result of Either-or-Subunit Mutations Exhibits Similar Phenotypes Because Mutations in Either Subunit Alter TFP Complex Expression and Subunit Turnover (PDF*)
• Peripheral Neuropathy, Episodic Myoglobinuria, and Respiratory Failure in Deficiency of the Mitochondrial Trifunctional Protein (PDF*)

Related Informational Articles

• Carbohydrate Metabolism and Blood Sugar Monitoring
• Managing Acute Gastroenteritis Among Children (PDF*)
• Coenzyme Q10 in the Treatment of Mitochondrial Disorders (PDF*)
• Nutrition and Fatty Oxidation Defects (PDF*)
• Cyclic Vomiting in Mitochondrial Diseases (PDF*)

Medical Q & A
Frequently Asked Questions

Hospital Listings Online
Hospitals in the USA

More US Hospitals
Hospitals in Europe
Hospitals around the World

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*)

Letters suggested for MCAD, LCHAD, VLCAD,and SCAD

Hospital Protocol for Expecting GA2/MADD Mom

•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 for Emergency Room Personnel (see above, after the Description of each Disorder).

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.