277.85, Disorders of fatty acid oxidation
Initial symptoms/signs may include:
- poor feeding,
- lethargy progressing to coma,
- lab findings:
- hyperammonemia, and
Subsequent symptoms/signs may include:
- liver dysfunction,
- encephalopathy, and
- sudden death.
- Contact the family and evaluate the infant for related symptoms
- Provide emergency treatment/referral for symptoms of hypoglycemia, lethargy, feeding problems
- 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, the need for frequent feedings, and the need for urgent care when the infant becomes ill (see MCADD info for parents (STAR-G) for additional information); provide an "emergency" letter guiding caregivers in the appropriate response to acute illness (and an MedicAlert bracelet for older kids and adults)
- Frequent, low fat, high carbohydrate meals and snacks may be indicated for affected children
- Glucose may be indicated during hypoglycemic episodes
- Oral L-carnitine may be recommended for some children
- For those identified after irreversible consequences, assist in management, particularly with developmental and educational interventions
- See also the Diagnosis Module on MCADD
See also the MCADD Diagnosis Module.
MCADD 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 MCADD (ACMG)( 348 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.
MCADD Acute Illness Protocol (NECMP)( 17 KB)
A guideline for healthcare professionals treating the sick infant/child who has previously been diagnosed with MCADD; 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.
Excellent review by Detrich Matern, MD and Piero Rinaldo, MD, PhD including clinical description, differential, management, genetic counseling, molecular genetics, and a bibliography.
Resource for MCADD (NLM)
Comprehensive compilation of links to information, articles, research, case studies, genetics, and more; from the National Library of Medicine and the Genetic Alliance.
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; Genetics in Primary Care Institute.
MCADD info for parents (STAR-G)
From the Screening, Technology and Research in Genetics (STAR-G) site, providing information for parents about MCADD and links to other sites including parent support groups.
MCADD (Genetics Home Reference)
Excellent, detailed review aimed at patients and families from the National Library of Medicine's Genetics Home Reference site.
MCAD: A Guide for Parents( 618 KB)
From the Western States Genetic Services Collaborative, this 8-page guide provides information about Medium Chain Acyl-CoA Dehydrogenase Deficiency including an overview; social concerns; sample treatment plan; glossary; regional resources; references and more.
MCAD: A Guide for Parents (Spanish)( 202 KB)
Spanish translation of an 8-page guide provides information about Medium Chain Acyl-CoA Dehydrogenase Deficiency including an overview; social concerns; sample treatment plan; glossary; regional resources; references and more; from the Western States Genetic Services Collaborative.
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.
National Newborn Screening & Genetics Resource Center
Provides information for families and professionals about genetic screening; links to support and advocacy groups; links to state genetic contacts; newsletters; fact sheets; data reports; publications; and more.
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 - 3/2007|
|Compiled and edited by:||Alfred Romeo, RN, PhD - 3/2007|
|Content Last Updated:||7/2010|
Schulze A, Lindner M, Kohlmuller D, Olgemoller K, Mayatepek E, Hoffmann GF.
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.
Pediatrics. 2003;111(6 Pt 1):1399-406. PubMed abstract