- Contact the family and evaluate the infant for poor feeding, vomiting, or lethargy.
- Provide emergency treatment/referral for signs/symptoms of hypoglycemia or metabolic acidosis.
- To confirm the diagnosis, work with the following service(s): see all Newborn Screening Programs services providers (3) in our database.
- For evaluation and ongoing collaborative management, consult the following service(s): Pediatric Medical Genetics, (801-213-3599); See also Services below.
- Educate the family regarding signs, symptoms, and the need for urgent care when the infant becomes ill(see Isobutyryl-CoA Dehydrogenase Deficiency - Information for Parents (STAR-G) for additional information).
- Assist in implementing and maintaining a protein restricted diet.
- Oral L-carnitine may be indicated.
- For those identified after irreversible consequences, assist in management, particularly with developmental and educational interventions.
Isobutyryl-CoA Dehydrogenase Deficiency - Information for Professionals (STAR-G)
Structured list of information about the condition and links to more information; Screening, Technology, and Research in Genetics.
Isobutyryl-CoA Dehydrogenase Deficiency (OMIM)
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. It includes health supervision guidelines and other useful resources; represents a collaboration among the Health Resources & Services Administration, the Maternal and Child Health Bureau, and the American Academy of Pediatrics.
Organic Acidemia Association (OAA)
A nonprofit organization that provides information, newsletters, calendars of events, connections with other parents, a listserv, a discussion board, and nutrition and recipe ideas.
Isobutyryl-CoA Dehydrogenase Deficiency (Genetics Home Reference)
Excellent, detailed review of condition for patients and families; sponsored by the U.S. National Library of Medicine.
Isobutyryl-CoA Dehydrogenase Deficiency - 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.
Baby's First Test: Isobutyryl-CoA Dehydrogenase Deficiency
Information about early signs, follow-up testing, treatment, causes, accessing care, and expected outcomes. Provides links to support services; supported by the U.S. Department of Health and Human Services.
National Newborn Screening and Global Resource Center (NNSGRC)
Provides information about each state's newborn screening programs; sponsored by the University of Texas Health Science Center at San Antonio, Department of Pediatrics.
ACT Sheet for Elevated C4 Acylcarnitine (ACMG) ( 349 KB)
Contains short-term recommendations for clinical follow-up of the newborn who has screened positive; American College of Medical Genetics.
Confirmatory Algorithm for Elevated C4 Acylcarnitine (ACMG)
Resource for clinicians to help confirm diagnosis; American College of Medical Genetics.
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.
Pasquali M, Monsen G, Richardson L, Alston M, Longo N.
Biochemical findings in common inborn errors of metabolism.
Am J Med Genet C Semin Med Genet. 2006;142C(2):64-76. PubMed abstract
|Author:||Nicola Longo, MD, PhD - 3/2011|
|Content Last Updated:||4/2011|