Fatty Acid Oxidation Disorders (MCADD, LCHADD, VLCADD) (FAQ)
- What are fatty acid oxidation disorders (MCADD, LCHADD, VLCADD)?
- How do you get fatty acid oxidation disorders?
- What are the symptoms?
- How is it diagnosed?
- What is the expected outcome?
- Will anyone else in the family get a fatty acid oxidation disorder?
- What is the treatment?
- How will my family’s life be changed?
- What is beta-oxidation?
- Resources
What are fatty acid oxidation disorders (MCADD, LCHADD, VLCADD)?
How do you get fatty acid oxidation disorders?
What are the symptoms?
- poor feeding
- vomiting
- lethargy
- hypotonia (low muscle tone)
- hepatomegaly (swelling of the liver)
- cardiac insufficiency
- abnormal lab findings: elevated liver and muscle enzymes, increased blood acids, low blood sugar
- eye problems (may be present in children with LCHADD and VLCADD)
- rhabdomyolysis (breakdown of muscle tissue that releases a damaging protein into the blood)
- hepatic (liver) disease
- cardiomyopathy (heart muscle disease)
- cardiac conduction defects
- peripheral neuropathy
- myopathy
- seizures
- brain damage
- death
How is it diagnosed?
What is the expected outcome?
Will anyone else in the family get a fatty acid oxidation disorder?
- 1 in 4 chance of the child having the condition
- 2 in 4 chance of the child being a carrier
- 1 in 4 chance of the child not having the gene mutation or the disorder
What is the treatment?
- Levocarnitine (L-carnitine) can help remove ketones that the body is unable to remove due to an incomplete breakdown of fatty acids.
- Zofran is an anti-nausea medication that can be used when children are sick and may prevent them from needing treatment in the hospital.
How will my family’s life be changed?
What is beta-oxidation?
- very-long chain fats to long-chain fats, and
- long-chain fats to medium-chain fats,
Resources
Information & Support
MCADD
LCHAD/TFP Deficiency
VLCADD
Assessment and management information for the primary care clinician caring for the child with fatty acid oxidation disorders (MCADD, LCHADD, VLCADD).
Care Notebook
Medical information in one place with fillable templates to help both families and providers. Choose only the pages needed to keep track of the current health care summary, care team, care plan, health coverage, expenses, scheduling, and legal documents. Available in English and Spanish.
For Parents and Patients
Support
Fatty Oxidation Disorders (FOD) Family Support Group
Information for families about fatty acid oxidation disorders, support groups, coping, finances, and links to other sites.
General
An Educator’s Guide to MCADD
Contains information to help educators understand MCADD, and can be printed to give to your child’s teacher; Boston Children's
Hospital.
VLCADD - Information for Parents (STAR-G)
A fact sheet, written by a genetic counselor and reviewed by metabolic and genetic specialists, for families who have received
an initial diagnosis of a newborn disorder; Screening, Technology and Research in Genetics.
Very long-chain acyl-CoA dehydrogenase deficiency (MedlinePlus)
Information for families that includes description, frequency, causes, inheritance, other names, and additional resources;
from the National Library of Medicine.
MCADD - Information for Parents (STAR-G)
A fact sheet, written by a genetic counselor and reviewed by metabolic and genetic specialists, for families who have received
an initial diagnosis of this newborn disorder; Screening, Technology and Research in Genetics.
Medium-chain acyl-CoA dehydrogenase deficiency (MedlinePlus)
Information for families that includes description, frequency, causes, inheritance, other names, and additional resources;
from the National Library of Medicine.
MCADD: A Guide for Parents (PacNoRGG) ( 618 KB)
Eight-page guide that includes an overview, social concerns, sample treatment plan, glossary, regional resources, and references;
sponsored by the Pacific Northwest Regional Genetics Group.
LCHAD Deficiency - Information for Parents (STAR-G)
A fact sheet, written by a genetic counselor and reviewed by metabolic and genetic specialists, for families who have received
an initial diagnosis of this newborn disorder; Screening, Technology and Research in Genetics.
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (MedlinePlus)
Information for families that includes description, frequency, causes, inheritance, other names, and additional resources;
from the National Library of Medicine.
Mitochondrial Trifunctional Protein Deficiency (MedlinePlus)
Information for families that includes description, frequency, causes, inheritance, other names, and additional resources;
from the National Library of Medicine.
Services for Patients & Families in Idaho (ID)
Service Categories | # of providers* in: | ID | NW | Other states (5) (show) | | MT | NM | NV | RI | UT |
---|---|---|---|---|---|---|---|---|---|---|
Biochemical Genetics (Metabolics) | 1 | 2 | 1 | 2 | 3 | 3 | ||||
Developmental - Behavioral Pediatrics | 1 | 8 | 1 | 2 | 11 | 9 | ||||
Developmental Assessments | 13 | 128 | 3 | 34 | 55 | |||||
Disability Rights Groups | 9 | 12 | 9 | 17 | 13 | 29 | ||||
Genetic Testing and Counseling | 7 | 13 | 7 | 14 | 9 | 14 | ||||
Medical Genetics | 1 | 8 | 4 | 5 | 4 | 6 | ||||
Newborn Screening Services | 1 | 4 | 1 | 2 | 2 | 3 | ||||
Nutrition, Metabolic | 15 | 17 | 15 | 16 | 17 | 16 | ||||
Pediatric Cardiology | 1 | 14 | 1 | 5 | 17 | 6 | ||||
Pediatric Neurology | 15 | 5 | 17 | 5 | ||||||
Pediatric Ophthalmology | 1 | 14 | 1 | 6 | 8 | 5 |
For services not listed above, browse our Services categories or search our database.
* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.
Studies
LCHAD/TFP Deficiency in Children (birth-17 years) (ClinicalTrials.gov)
Studies looking at better understanding, diagnosing, and treating this condition; from the National Library of Medicine.
MCADD (clinicaltrials.gov)
Studies looking at better understanding, diagnosing, and treating this condition; from the National Library of Medicine.