Resources, publications, support, advocacy organizations

Woman who typifies a healthcare provide and woman who typifies a person with LC-FAOD

Useful resources for you and your patients

Publications Supplemental resources Recursos en Español Relevant websites Patient advocacy

Publications

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

Bioscience Reports

Wajner M, Amaral AU

2015;36(1):e00281.
doi:10.1042/BSR20150240

Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening

BMC Pediatrics

Kang E, Kim YM, Kang M, et al

2018;18(1):103.
doi:10.1186/s12887-018-1069-z

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

Wanders RJ, Ruiter JP, IJLst L, Waterham HR, Houten SM

2010;33(5):479-494.
doi:10.1007/s10545-010-9104-8

Fatty acid beta-oxidation disorders: a brief review

Annals of Neurosciences

Vishwanath VA

2016;23(1):51-55.
doi:10.1159/000443556

The key role of anaplerosis and cataplerosis for citric acid cycle function

Journal of Biological Chemistry

Owen O, Kalhan S, Hanson R

2002;277(34):30409-30412.
doi:10.1074/jbc.R200006200

Supplemental Resources

Resources that may provide additional insight and support for you, your patients, and their parents and caregivers

A Patient’s Experience With LC-FAOD

PLAY VIDEO

Learn how a delayed diagnosis of CPT II deficiency has impacted an adult patient’s active lifestyle

Understand What Causes LC-FAOD and How It Impacts the Body

PLAY VIDEO

This video is not included in the LC-FAOD Patient Resource Toolkit.

The Potential Urgency of LC-FAOD

Discover the importance of addressing the unpredictable and precipitous impact of LC-FAOD

DOWNLOAD |

LUMI and Friends Children’s Book

Share this educational activity book with pediatric patients and their caregivers to help explain LC-FAOD and how to manage it.

DOWNLOAD |

Mechanism of disease brochure

Long-chain fatty acid oxidation disorder mechanism of disease content in print form

DOWNLOAD |

Neuromuscular Symptoms of
LC-FAOD Brochure

Learn about LC-FAOD and clinical signs that overlap with neuromuscular disorders, the cause and impact, patient case studies, and genetic testing to confirm a suspected diagnosis.

DOWNLOAD |

What are LC-FAOD?

Learn more about the different types of LC-FAOD, the metabolic imbalance caused by the disease, and the potential impacts your patients may face

DOWNLOAD |

LC-FAOD Fast Facts

A comprehensive overview of LC-FAOD: underlying defects, inheritance, manifestations, diagnosis, guidance on genetic counseling, and patient support*

DOWNLOAD |

Understanding LC-FAOD

Help your patients and their caregivers learn about the causes, impact, and signs and symptoms of LC-FAOD

DOWNLOAD |

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.

DOWNLOAD |

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

DOWNLOAD |

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

DOWNLOAD |

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

DOWNLOAD |

LC-FAOD Self-Care Assessment

This assessment will help you monitor your LC-FAOD symptoms and identify topics for you and your LC-FAOD healthcare teams to discuss.

DOWNLOAD |

RESOURCES FOR SPANISH-SPEAKING PATIENTS AND CAREGIVERS

Resources that may provide additional insight and support patients, parents, and caregivers

Understand What Causes LC-FAOD and How It Impacts the Body

PLAY VIDEO

This video is not included in the LC-FAOD Patient Resource Toolkit.

Understanding LC-FAOD

Help your patients and their caregivers learn about the causes, impact, and signs and symptoms of LC-FAOD

DOWNLOAD |

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

DOWNLOAD |

Crafting Your Story

Guidance for patients and caregivers as they think about how to tell their LC-FAOD story

DOWNLOAD |

Share Your Rare Journey

Advice on how and where patients and caregivers can share their experience to create a better understanding of LC-FAOD

DOWNLOAD |

Building Your Support Network

Help patients and caregivers connect with organizations that understand their experiences and challenges

DOWNLOAD |

Communicating With Healthcare Providers

Advice and tips on how patients and caregivers can create a better partnership with their healthcare team

DOWNLOAD |

Medical History

A template that patients and caregivers can use to record their LC-FAOD stories, list important contact information, and note symptoms and medications

DOWNLOAD |

Relevant Websites

Links to informative advocacy and support resources

Invitae

A program offering no-charge genetic testing to eligible patients suspected of having an LC-FAOD.

Genetic testing

Southeast Regional Genetics Network (SERN) and Genetic Metabolic Dietitians International (GMDI)

VLCAD Nutrition Management Guidelines*

FAOD organizations

International Network for Fatty Acid Oxidation Research and Management (INFORM)

FAOD disease-specific research and education

FAOD organizations

MitoAction

Mitochondrial disease education and awareness

FAOD organizations

Everylife Foundation for Rare Diseases

Rare disease public policy and legislative advocacy

Umbrella rare disease organizations

Global Genes

Rare disease education and support

Umbrella rare disease organizations

National Organization for Rare Disorders

Rare disease public policy advocacy, education, and research

Umbrella rare disease organizations

Rare New England

Rare disease support and education throughout New England

Umbrella rare disease organizations

Caregiver Action Network

Caregiver support

National Alliance for Caregiving

Public policy advocacy regarding caregiver issues

Caregiver support

Metabolic Support UK

Metabolic disease patient and caregiver support

Organizations outside the US

MitoCanada

Awareness, support, and education for mitochondrial disease in Canada

Organizations outside the US

Baby’s First Test

Rare disease newborn screening information and education

Newborn screening

Save Babies Through Screening Foundation

Rare disease newborn screening education and advocacy

Newborn screening

*This nutrition guideline is specific to the very long–chain acyl-CoA dehydrogenase deficiency (VLCAD) form of LC-FAOD. Please follow up with your patient with LC-FAOD to determine if these guidelines are appropriate for them.

Patient ADVOCACY AT ULTRAGENYX

At Ultragenyx, the patient advocacy team is passionate about educating and supporting patients, families, and caregivers affected by rare and ultrarare diseases. Find valuable resources, hear from others who live with rare diseases, and learn more about our commitment to the rare disease patient community.

UNMET NEEDS IN LC-FAOD

There remains an unmet clinical need in LC-FAOD. Many patients experience lifestyle limitations, as well as significant morbidities and life-threatening complications.

Resources

Useful resources for you and your patients

Publications

Supplemental Resources

RESOURCES FOR SPANISH-SPEAKING PATIENTS AND CAREGIVERS

Relevant Websites

Patient ADVOCACY AT ULTRAGENYX

UNMET NEEDS IN LC-FAOD

Reference

Stay Informed