With treatment, limited experience suggests sequelae may be avoidable. Without treatment, acute neonatal decompensation with neurologic deficits has been described. Most infants and children will not display symptoms in this rare disorder. Symptoms may be triggered by fasting or illness.

Initial signs/symptoms may include:

nausea,
vomiting,
irritability,
hypoglycemia, and
lethargy.

Follow-up on positive screening test

Quantitative plasma acylcarnitine profile, urine organic acids, urine acylglycine and acylcarnitine analysis.

Primary care management

Upon notification of the + screen

Contact the family and evaluate the infant for poor feeding, lethargy, vomiting;
Provide emergency treatment/referral for symptoms of vomiting, lethargy or seizures;
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): Metabolic Clinic, (801-585-2457); See also Services below;

If the diagnosis is confirmed

Educate the family regarding signs, symptoms, and the need for urgent care when the infant becomes ill (see Short/branched chain acyl-CoA dehydrogenase deficiency info for parents, STAR-G for additional information);
Assist in implementation of a low protein diet and avoidance of fasting;
Oral L-carnitine may be indicated;
For those identified after irreversible consequences, assist in management, particularly with developmental and educational interventions.

Specialty Care Management

Initial consultation and ongoing collaboration, particularly for dietary management. Genetic counseling for the family.

Resources

Links

For Professionals

Short/branched chain acyl-CoA dehydrogenase deficiency 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 Short/branched chain acyl-CoA dehydrogenase deficiency from ACMG
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.

ACMG ACT Sheets and Confirmatory Algorithms
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.

Short/branched chain acyl-CoA dehydrogenase deficiency Emergency Protocol
A protocol for management of the patient with a positive screen for Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency, from the New England Consortium of Metabolic Programs.

Short/branched chain acyl-CoA dehydrogenase deficiency, OMIM
Extensive review of the literature, including clinical features and gene therapy, 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.

For Parents

Short/branched chain acyl-CoA dehydrogenase deficiency info for parents, STAR-G
From the Screening, Technology and Research in Genetics (STAR-G) site, providing information for parents about short/branched chain acyl-CoA dehydrogenase deficiency and links to other sites including parent support groups.

Organic Acidemia Association (OAA)
A non-profit organization that provides information for parents and providers; newsletters; event information; connections with other parents; a listserv; a discussion board; information about nutrition and recipes; translation of their web pages into five other languages; hosting of the Propionic Acidemia Research Network and other research funds; and links to other sites.

For other services related to this condition, browse our Services categories or search our database.

Helpful Articles

PubMed search for articles on short/branched chain acyl-CoA dehydrogenase deficiency in the last 5 years.

Authors

Reviewing Author:

Nicola Longo MD, PhD, 3/2007

Compiled and edited by:

Alfred Romeo RN, PhD, 3/2007

Content Last Updated:

3/2008

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Short/branched chain acyl-CoA dehydrogenase deficiency

Disorder Category

Screening

Finding

Tested By

Names

ICD-9

Overview

Prevalence

Inheritance

Prenatal Testing

Clinical Characteristics