Initial symptoms/signs may include:
- Poor feeding
- Lethargy progressing to coma
- Lab findings:
- Elevated ALT and AST
- Liver dysfunction
- Sudden death
- Contact the family and evaluate the infant for related symptoms.
- Provide emergency treatment and referral for symptoms of hypoglycemia, lethargy, and feeding problems.
- Make sure the child eats at regular intervals (every 3 to 4 hours) and formula is available to the family in case breastfeeding becomes insufficient.
- Confirm the diagnosis, work with the following service(s): see all Newborn Screening Programs services providers (3) 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, the need for frequent feedings, and the need for urgent care if the infant becomes ill. (See MCADD - Information for Parents (STAR-G) for additional information.)
- Provide an "emergency" letter guiding caregivers in the appropriate response to acute illness and a medical ID bracelet for older kids and adults.
- Consider a heart-healthy diet for affected children after 1 year of age.
- Consider oral L-carnitine, which may be recommended in case of deficiency.
- Assist in management of irreversible consequences as necessary, particularly with developmental and educational interventions.
- See the Portal’s diagnosis and management module for MCADD.
MCADD - Information for Professionals (STAR-G)
Structured list of information about the condition and links to more information; Screening, Technology, and Research in Genetics.
Excellent review of MCADD that includes a clinical description, differential diagnoses, management information, and molecular genetic information; by Detrich Matern, MD and Piero Rinaldo, MD, PhD - sponsored by the U.S. National Library of Medicine.
Utah Newborn Screening Program (UDOH)
Provides information about the program, related legislation, training for practices, and newborn conditions; Utah Department of Health.
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 guidelines and other useful resources; a collaboration among the Health Resources & Services Administration, the Maternal and Child Health Bureau, and the American Academy of Pediatrics.
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.
MCADD (Genetics Home Reference)
Excellent, detailed review of MCADD for patients and families; sponsored by the U.S. 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.
MCADD: A Guide for Parents (PacNoRGG) (Spanish) ( 202 KB)
Spanish translation of an 8-page guide that includes an overview, social concerns, sample treatment plan, glossary, regional resources, and references; sponsored by the Pacific Northwest Regional Genetics Group.
Fatty Oxidation Disorders (FOD) Family Support Group
Information for families about fatty acid oxidation disorders, support groups, coping, finances, and links to other sites.
Newborn Screening Information for Clinicians (NNSGRC)
Fact sheets, data reports, publications ,and information for clinicians about genetic screening that includes links to state genetic contacts; National Newborn Screening & Global Resource Center.
ACT Sheet for MCADD (ACMG) ( 348 KB)
Contains short-term recommendations for clinical follow-up of the newborn who has screened positive; American College of Medical Genetics.
Confirmatory Algorithm for MCADD (ACMG) ( 63 KB)
Resource for clinicians to help confirm diagnosis; American College of Medical Genetics.
MCADD Acute Illness Protocol (NECMP) ( 17 KB)
Guideline for clinicians treating the sick infant or child who has 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. Click pdf to view the complete protocol.
See all Newborn Screening Programs services providers (3) in our database.
See all Pediatric Genetics services providers (5) in our database.
For other services related to this condition, browse our Services categories or search our database.
Leonard JV, Dezateux C.
Newborn screening for medium chain acyl CoA dehydrogenase deficiency.
Arch Dis Child. 2009;94(3):235-8. PubMed abstract
|Author:||Nicola Longo, MD, PhD - 12/2015|
|Content Last Updated:||12/2015|
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
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