277.85, disorders of fatty acid oxidation
E71.31, long chain/very long chain acyl CoA dehydrogenase deficiency
Initial signs/symptoms in the early and childhood types may include:
- Poor feeding
- Behavior changes
- Extreme sleepiness
- Muscle weakness
- Lab findings:
- Metabolic acidosis
- Difficulty breathing
- Muscle weakness with exertion
- Brain damage
- Muscle breakdown with exercise or prolonged fasting
- Muscle aches
- Reddish-brown urine
- Kidney failure
- Contact the family and evaluate the infant for poor feeding, lethargy, hypotonia, hepatomegaly, or cardiac problems.
- Recommend frequent feeding (every 3 to 4 hours in infants), including at night.
- Provide emergency treatment and referral for symptoms of hypoglycemia, arrhythmia, or cardiac decompensation.
- Confirm the diagnosis, work with the following service(s): see all Newborn Screening Programs services providers (1) in our database.
- Evaluate and continue ongoing collaborative management, consult the following service(s): Pediatric Medical Genetics, (801-213-3599); See also Services below.
- Educate the family about signs, symptoms, and the need for urgent care if the infant becomes ill (see VLCADD Info for Parents (STAR-G) for additional information).
- Assist with implementation of a low-fat diet supplemented with medium chain triglycerides if necessary.
- Consider oral L-carnitine and medium chain triglyceride (MCT) oil supplements.
- Assist in management of irreversible consequences as necessary, particularly with developmental and educational interventions.
- See the Portal’s diagnosis and management module for VLCADD.
An expert-authored, peer-reviewed, current disease description that applies genetic testing to diagnosis and management information for the condition; National Center for Biotechnology Information, U.S. National Library of Medicine.
VLCADD Info for Professionals (STAR-G)
Structured list of information about the condition and links to more information; Screening, Technology, and Research in Genetics.
ACT Sheet for VLCADD (ACMG) ( 347 KB)
Recommended responses to positive newborn screening test results. Includes diagnostic evaluation, clinical expectations, and sources of additional information; American College of Medical Genetics.
Confirmatory Algorithm for VLCADD (ACMG) ( 45 KB)
Resource for clinicians to help confirm diagnosis; American College of Medical Genetics.
VLCADD Acute Illness Protocol (NECMP)
A guideline for healthcare professionals treating the sick infant/child who has previously been diagnosed with VLCADD; developed under the direction of Dr. Harvey Levy, Senior Associate in Medicine/Genetics at Children’s Hospital Boston, and Professor of Pediatrics at Harvard Medical School, for the New England Consortium of Metabolic Programs.
Extensive review of literature that provides technical information on genetic disorders; Online Mendelian Inheritance in Man site, hosted by Johns Hopkins University.
Genetics in Primary Care Institute (AAP)
The goal of this site is to increase collaboration in the care of children with known or suspected genetic disorders. Includes health supervision and management guidelines, and other useful resources; a collaboration among the Health Resources & Services Administration, the Maternal & Child Health Bureau, and the American Academy of Pediatrics.
Utah Newborn Screening Program (UDOH)
Provides information and statistics about the program and related legislation, training for practices, and the conditions screened for; Utah Department of Health.
Fatty Oxidation Disorders (FOD) Family Support Group
Information for families about fatty acid oxidation disorders, support groups, coping, finances, and links to other sites.
VLCADD Info 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.
VLCADD (Genetics Home Reference)
Excellent, detailed review of condition for patients and families; sponsored by the U.S. National Library of Medicine.
See all Newborn Screening Programs services providers (1) in our database.
See all Pediatric Genetics services providers (3) in our database.
For other services related to this condition, browse our Services categories or search our database.
|Author:||Nicola Longo, MD, PhD - 12/2015|
|Content Last Updated:||12/2015|
Ficicioglu C, Coughlin CR 2nd, Bennett MJ, Yudkoff M.
Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry.
J Pediatr. 2010;156(3):492-4. PubMed abstract
Therrell BL Jr, Lloyd-Puryear MA, Camp KM, Mann MY.
Inborn errors of metabolism identified via newborn screening: Ten-year incidence data and costs of nutritional interventions for research agenda planning.
Mol Genet Metab. 2014;113(1-2):14-26. PubMed abstract / Full Text