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Isobutyryl-CoA Dehydrogenase Deficiency

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Guidance for primary care clinicians receiving a positive newborn screen result

Other Names

Acyl-CoA dehydrogenase family, member 8
IBDH
Isobutyrylglycinuria (IBG)

ICD-10 Coding

E71.19, Other disorders of branched-chain amino-acid metabolism

Disorder Category

Organic acidemia

Screening

Abnormal Finding

Elevated C4 (butyrylcarnitine)

Tested By

Tandem mass spectrometry (MS/MS); sensitivity=NA; specificity=NA

Description

The deficiency of isobutyryl-CoA dehydrogenase causes the inability to break down the amino acid valine in protein and results in the accumulation of organic acids. The disorder is very rare, and the long-term consequences of this condition are unclear, even though infants identified by newborn screening seem to have a very benign course. Historical cases were reported to have cardiomyopathy and carnitine deficiency.

Clinical Characteristics

With treatment, improvement in growth and normal development can be expected. Treatment consists of carnitine 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 completely asymptomatic.

Incidence

The incidence of isobutyryl-CoA dehydrogenase deficiency is rare; less than 5 cases have been published. Although this condition is now routinely identified by newborn screening, cases are no longer published.

Inheritance

Autosomal recessive

Primary Care Management

Next Steps After a Positive Screen

  • Contact the family and evaluate the infant for any symptoms.
  • There is no need for emergency protocols for this condition.

Confirming the Diagnosis

  • To confirm the diagnosis of isobutyryl-CoA dehydrogenase deficiency, work with Newborn Screening Services (see RI providers [2]).
  • Follow-up testing will include quantitative plasma acylcarnitine profile, urine organic acids, and urine acylglycines.

If the Diagnosis is Confirmed

  • For evaluation and ongoing collaborative management, consult Biochemical Genetics (Metabolics) (see RI providers [3]).
  • Educate the family regarding signs, symptoms, and need for urgent care when the infant becomes ill.
  • No special diet is necessary for this condition.
  • Oral L-carnitine may be indicated.
  • For those identified after irreversible consequences, assist in management, particularly with developmental and educational interventions.

Resources

Information & Support

Related Portal Content
After a Diagnosis or Problem is Identified
Families can face a big change when their baby tests positive for a newborn condition. Find information about A New Diagnosis - You Are Not Alone; Caring for Children with Special Health Care Needs; Assistance in Choosing Providers; Partnering with Healthcare Providers; Top Ten Things to Do After a Diagnosis.

For Professionals

Isobutyryl-CoA Dehydrogenase Deficiency (OMIM)
Information about clinical features, diagnosis, management, and molecular and population genetics; Online Mendelian Inheritance in Man, authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine

For Parents and Patients

Isobutyryl-CoA Dehydrogenase Deficiency (MedlinePlus)
Information for families that includes description, frequency, causes, inheritance, other names, and additional resources; from the 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.

Tools

RI ACT Sheet for Elevated C4 Acylcarnitine (ACMG) (PDF Document 145 KB)
Provides recommendations for clinical and laboratory follow-up of the newborn with out-of-range screening results, along with national and local resources for clinicians and families; American College of Medical Genetics.

Confirmatory Algorithm for SCADD/Elevated C4 (ACMG) (PDF Document 202 KB)
Contains short-term recommendations for clinical follow-up of the newborn who has screened positive; American College of Medical Genetics.

Services for Patients & Families in Rhode Island (RI)

For services not listed above, browse our Services categories or search our database.

* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.

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

Santra S, Macdonald A, Preece MA, Olsen RK, Andresen BS.
Long-term outcome of isobutyryl-CoA dehydrogenase deficiency diagnosed following an episode of ketotic hypoglycaemia.
Mol Genet Metab Rep. 2017;10:28-30. PubMed abstract / Full Text

Yun JW, Jo KI, Woo HI, Lee SY, Ki CS, Kim JW, Song J, Lee DH, Lee YW, Park HD.
A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum.
Clin Genet. 2015;87(2):196-8. PubMed abstract

Authors & Reviewers

Initial publication: March 2007; last update/revision: July 2018
Current Authors and Reviewers:
Author: Nicola Longo, MD, Ph.D.
Authoring history
2011: first version: Nicola Longo, MD, Ph.D.A
AAuthor; CAContributing Author; SASenior Author; RReviewer