Isobutyryl-CoA Dehydrogenase Deficiency
Overview
Deficiency of Isobutyryl-CoA dehydrogenase causes inability to break down the amino acid valine in protein and resulting accumulation of organic acids. The disorder is very rare and the long term consequences of this condition are unclear.Incidence
Fewer than 5 cases have been identified [Isobutyryl-CoA Dehydrogenase Deficiency - Information for Professionals (STAR-G)]Clinical Characteristics
With treatment, improvement in growth and normal development can be expected. Treatment consists in canitine supplementation to prevent deficiency. Without treatment, outcomes are unknown because of the very few observed cases. Symptoms were reported to start at one year of age and may be triggered by fasting and illness. Most patients identified by newborn screening have remained asymptomatic.Follow-up Testing after Positive Screen
Quantitative plasma acylcarnitine profile, urine organic acids, urine acylglycines.Primary Care Management
Upon Notification of the + Screen
- 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 (2) in our database.
- For evaluation and ongoing collaborative management, consult the following service(s): see all Pediatric Genetics services providers (5) in our database.
If the Diagnosis is Confirmed
- 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.
Specialty Care Collaboration
Initial consultation and ongoing collaboration, particularly for dietary management. Genetic counseling for the family.Resources
Information & Support
For Professionals
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.
For Parents and Patients
Support
Organic Acidemia Association (OAA)
A nonprofit organization that provides information, support, events, connections with other parents, a discussion board,
and nutrition and recipe ideas.
General
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 (Genetic Alliance)
Information about early signs, follow-up testing, treatment, accessing care, and expected outcomes. Provides links to support
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.
Tools
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.
Services
Newborn Screening Programs
See all Newborn Screening Programs services providers (2) in our database.
For other services related to this condition, browse our Services categories or search our database.
Helpful Articles
PubMed search for isobutyryl-CoA dehydrogenase deficiency.
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