Description of Disorders

• MedlinePlus ~ search metabolic conditions, medical tests
• MCAD Information for Families
• MCAD Information for Clinicians
• MCAD-GeneReviews
• MCAD Study Summary of 120 children
• MCAD: MedlinePlus
• Understanding the MCAD gene: Genetics Home Reference
• LCHAD: MedlinePlus
• 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: MedlinePlus
• Primary and Secondary Carnitine Deficiency/Treatment
• Carnitine Palmitoyltransferase (CPT) I, Muscle
• Carnitine Palmitoyltransferase (CPT) I, Hepatic
• CPT 1A (liver): MedlinePlus
• CPT 1A: GeneReviews
• Carnitine Palmitoyltransferase (CPT) II
• CPT 2: MedlinePlus
• Parent’s Guide to GA2/ MADD
• What is GA2? (STAR-G)
• MADD/GA 2 Information
• Glutaric Acidemia II (MADD/GA 2)
• SCAD: GeneReviews
• SCAD Information
• SCAD: MedlinePlus
• HADH: MedlinePlus (also called M/SCHAD, SCHAD)
• HADH Information also called M/SCHAD, SCHAD)
• VLCAD Information
• VLCAD: GeneReviews
• VLCAD: MedlinePlus
• ACAD9 Deficiency: A New Inborn Error
• Carnitine-Acylcarnitine Translocase Deficiency: MedlinePlus
• Carnitine-Acylcarnitine Translocase Deficiency Information
• HMG Deficiency: MedlinePlus (3-hydroxyacyl-CoA dehydrogenase deficiency)
• HMG Deficiency Information (3-hydroxyacyl-CoA dehydrogenase deficiency)
• Trifunctional Protein Deficiency Information
• TFP/LCHAD Information (PDF)
• TFP: MedlinePlus
• Medium-chain ketoacyl-CoA thiolase deficiency(MCKAT)
• 2,4-Dienoyl-CoA Reductase Deficiency Information
• 2,4 Dienoyl-CoA Reductase Deficiency
• TANGO 2 gene (FOD ‘look-alike’)
• 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
• Tools Enabling Metabolic Parents Learning
• Find a Metabolic Dietitian
• Understanding and Navigating Mitochondrial Disease
• Exercise and Mito
• Air Transportation/Lodging links for Families in Need
• List of meds to be used with caution (updated listing)
• Anesthesia Concerns: Propofol Infusion Syndrome
• Anesthesia Concerns: from Mitoaction
• 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.