277.85, Disorders of fatty acid oxidation
Initial signs/symptoms in the "early" and "childhood" types may include:
- poor feeding,
- behavior changes,
- extreme sleepiness,
- muscle weakness,
- lethargy, and
- lab findings:
- metabolic acidosis, and
If not treated promptly, patients may experience:
- difficulty breathing,
- muscle weakness with exertion,
- brain damage, and
"Adult" type symptoms may include:
- muscle breakdown,
- muscle aches,
- reddish-brown urine, and
- kidney failure.
- contact the family and evaluate the infant for poor feeding, lethargy, hypotonia, hepatomegaly, or cardiac problems;
- Provide emergency treatment/referral for symptoms of hypoglycemia, arrhythmia, or cardiac decompensation;
- To confirm the diagnosis, work with the following service(s): Utah Newborn Screening Program, (801-584-8256); See also Services below;
- For evaluation and ongoing collaborative management, consult the following service(s): Medical Genetics, (801-231-3599); See also Services below;
- Educate the family regarding signs, symptoms, and the need for urgent care when the infant becomes ill (see VLCADD info for parents (STAR-G) for additional information);
- Assist with implementation of a low-fat, high carbohydrate diet;
- Oral L-carnitine and medium chain triglyceride (MCT) oil supplements may be indicated;
- Cornstarch supplements and avoidance of long chain fatty acids may also be indicated;
- For those identified after irreversible consequences, assist in management, particularly with developmental and educational interventions.
See also the VLCADD Diagnosis Module.
VLCADD info for professionals (STAR-G)
On the Screening, Technology and Research in Genetics (STAR-G) site, one of a series of Disorder Fact Sheets for Professionals; structured list of information about the condition, with links to more information.
ACT Sheet for VLCADD (ACMG)( 347 KB)
Developed by the American College of Medical Genetics (ACMG), includes recommended responses to positive newborn screening test results, diagnostic evaluation, clinical expectations, and sources of additional information. See the ACMG ACT Sheets and Confirmatory Algorithms (link elsewhere on this page) for more info and sheets on other conditions.
Newborn Screening ACT Sheets & Confirmatory Algorithms (ACMG)
The American College of Medical Genetics (ACMG) has developed ACTion (ACT) Sheets and algorithms for responding to positive newborn screening test results. This page contains a table with links to all of the ACT Sheets and related algorithms.
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.
Resources for VLCAD deficiency (NLM)
Comprehensive compilation of links to information, articles, research, case studies, genetics, and more; from the National Library of Medicine and the Genetic Alliance.
Extensive review of the literature, including clinical features and genetics, from the Online Mendelian Inheritance in Man site, hosted by Johns Hopkins University, providing technical information for providers on genetic disorders, links to MEDLINE, and links to other scientific information and sites.
Genetics in Primary Care Institute (GPCI)
A collaboration among the Health Resources & Services Administration, the Maternal & Child Health Bureau, and the American Academy of Pediatrics aimed at increasing collaboration in the care of children with known or suspected genetic disorders; includes health supervision and management guidelines, and other useful resources.
VLCADD info for parents (STAR-G)
From the Screening, Technology and Research in Genetics (STAR-G) site, providing information for parents about VLCADD and links to other sites including parent support groups.
VLCADD (Genetics Home Reference)
Excellent, detailed review aimed at patients and families from the National Library of Medicine's Genetics Home Reference site.
Fatty Oxidation Disorders (FOD) Family Support Group
The FODsupport.org site offers a variety of information for families about fatty acid oxidation disorders, support groups, coping, finances, and links to other sites.
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.
|Reviewing Author:||Nicola Longo MD, PhD, 3/2007|
|Compiled and edited by:||Alfred Romeo RN, PhD, 3/2007|
|Content Last Updated:||1/2011|
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