Description of Disorders

Overview of Fatty Oxidation Disorders
MCAD Information for Families
MCAD Information for Clinicians
MCAD-GeneReviews
MCAD Study Summary of 120 children
MCAD: Genetics Home Reference
Understanding the MCAD gene: Genetics Home Reference
LCHAD: Genetics Home Reference
LCHAD/FODs and HELLP Syndrome in pregnancy
Rhabdomyolysis (can occur with some FODs)
Rhabdomyolysis
LCHAD (article in 1995 FOD newsletter)
My Special Body by Stephanie Harry (LCHAD mom): Order form. Book is geared toward 3-6 yr olds with LCHAD, VLCAD, or TFP.
Primary Carnitine Deficiency/Carnitine Transport Defect
Primary Carnitine Deficiency: Genetics Home Reference
Primary and Secondary Carnitine Deficiency/Treatment
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
Parent's Guide to GA2/ MADD
What is GA2? (STAR-G)
GA2/MADD Information
Glutaric Acidemia II (GA2/MADD)
SCAD: GeneReviews
SCAD Information
SCAD: Genetics Home Reference
HADH: Genetics Home Reference (formerly called SCHAD)
HADH Information (formerly called SCHAD)
VLCAD Information
VLCAD: GeneReviews
VLCAD: Genetics Home Reference
ACAD9 Deficiency: A New Inborn Error ACAD9DeficiencyANewInbornError
Carnitine-Acylcarnitine Translocase Deficiency: Genetics Home Reference
Carnitine-Acylcarnitine Translocase Deficiency Information
HMG Deficiency: Genetics Home Reference
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 Guides to various FODs - MCAD, SCAD, VLCAD, GA2 [from CA NBS site]
eMedicine Inborn Errors of Metabolism Overview (you can register for eMedicine for free)
eMedicine Genetics and Metabolism articles on various disorders (you can register for eMedicine for free)
Parent Factsheets for 11 FODs screened for within expanded newborn screening
Genetics Home Reference: Various metabolic descriptions
Find a Metabolic Dietitian
Myths and Facts about Mitochondrial Diseases
Foundation for Mitochondrial Medicine
Air Transportation/Lodging 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.

Newborn Screening Labs & Metabolic Diagnostic Labs/Clinics