A series of published FAOD case studies and case reports
Topçu Y, Bayram E, Karaoğlu P, Yis U, and Kurul SH. Importance of acylcarnitine profile analysis for disorders of lipid metabolism in adolescent patients with recurrent rhabdomyolysis: Report of two cases Ann Indian Acad Neurol. 2014;17(4):437-440.
Smelt AHM, Poorthuis BJHM, Onkenhout IW, Scholte HR, Andresen BS, van Duinen SG, Gregersen N, and Wintzen AR.Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency with Adult Onset. Annals of Neurology. 1998;43(4):540-544.
Selected publications included as sources of relevant open access information on FAOD
Mitochondrial dysfunction in fatty acid oxidation disorders: insights from human and animal studies
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening
The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results
Journal of Inherited Metabolic Disease
Resources that may provide additional insight and support for you, your patients, and their parents and caregivers
LC-FAOD Fast Facts
A comprehensive overview of LC-FAOD: underlying defects, inheritance, manifestations, diagnosis, guidance on genetic counseling, and patient support*
Mechanism of disease brochure
Long-chain fatty acid oxidation disorder mechanism of disease content in print form
Sponsored genetic testing overview
Learn about a program providing no-charge testing for eligible patients suspected to have an LC-FAOD
Sponsored genetic testing requisition form
Download a printable test requisition form to order sponsored LC-FAOD genetic testing for eligible patients
Help your patients and their caregivers learn about the causes, impact, and signs and symptoms of LC-FAOD
LC-FAOD Fast Facts for Patients
An educational booklet for patients and caregivers on the science behind LC-FAOD and the healthcare professionals who may be their team*
Not part of the LC-FAOD Patient Resource Toolkit.
An overview of what you can expect to learn in the following documents about the long-chain fatty acid oxidation disorders to help your patients.
LC-FAOD Life Transition Booklet: Infant & Children (ages 0 to 9 years)
Help the caregivers of your infant and early childhood patients learn what to expect with LC-FAOD
LC-FAOD Life Transition Booklet: Preteen & Teen (ages 10 to 17 years)
Help your preteen and teen patients learn what to expect with LC-FAOD
LC-FAOD Life Transition Booklet: Young Adult & Beyond (age 18+ years)
Help your young adult patients learn what to expect with LC-FAOD as they transition to adulthood
Living Well While Caring for Someone With LC-FAOD
Information on how to prepare caregivers of a child with LC-FAOD and access the help and support they need
Crafting Your Story
Guidance for patients and caregivers as they think about how to tell their LC-FAOD story
Share Your Rare Journey
Advice on how and where patients and caregivers can share their experience to create a better understanding of LC-FAOD
Building Your Support Network
Help patients and caregivers connect with organizations that understand their experiences and challenges
Communicating With Healthcare Providers
Advice and tips on how patients and caregivers can create a better partnership with their healthcare team
A template that patients and caregivers can use to record their LC-FAOD stories, list important contact information, and note symptoms and medications
Living with CPT II
Watch this video about a Canadian’s experience living with CPT2 (a longchain fatty acid oxidation disorder type).
0 documents selected
*This resource is an independent publication developed by S. Karger Publishers Limited and provided as a service to medicine. Supported by an educational grant from Ultragenyx Pharmaceutical Inc.