
			Screening & Prevention

Screening and Prevention Intro
Developmental Screening
Infant Social-Emotional Screening
Maternal Depression Screening
Newborn Screening
- Amino Acid Disorders
- Endocrine Disorders
  - Congenital adrenal hyperplasia
  - Congenital hypothyroidism
- Fatty Acid Oxidation Disorders
- Galactosemias
  - Galactosemia
- Hemoglobinopathies
  - Sickle cell disease
- Organic Acidemias

Isobutyryl Co-A dehydrogenase deficiency

Screening

Tested By

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

Names

IBDH

Isobutyrylglycinuria (IBG)

Acyl-CoA dehydrogenase family, member 8

ICD-9

270.3, Disturbances of branched-chain amino-acid metabolism

Overview

Deficiency of Isobutyryl-CoA dehydrogenase causes inability to break down the amino acid valine in protein and resulting accumulation of organic acids.

Prevalence

fewer than 5 cases have been identified. [Isobutyryl Co-A dehydrogenase deficiency, info for professionals, STAR-G]

Prenatal Testing

DNA testing or enzyme analysis by amniocentesis or CVS.

With treatment, improvement in growth and normal development can be expected. 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.

Initial signs/symptoms may include:

poor growth,
caridomyopathy,
lab findings:
- anemia, and
- low levels of carnitine.

Follow-up on positive screening test

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): 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 Isobutyryl Co-A dehydrogenase deficiency info 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 Management

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

Resources

Links

For Professionals

Isobutyryl Co-A 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 Isobutyryl Co-A 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.

Isobutyryl Co-A dehydrogenase deficiency, OMIM
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

Isobutyryl Co-A dehydrogenase deficiency info for parents, STAR-G
From the Screening, Technology and Research in Genetics (STAR-G) site, providing information for parents about isovaleric acidemia 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 isobutyryl-CoA dehydrogenase deficiency in the last 5 years.

Authors

Compiled and edited by:

Alfred Romeo RN, PhD, 3/2007

Content Last Updated:

3/2008

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Isobutyryl Co-A dehydrogenase deficiency

Disorder Category

Screening

Finding

Tested By

Names

ICD-9

Overview

Prevalence

Inheritance

Prenatal Testing

Clinical Characteristics

Follow-up on positive screening test

Primary care management

Upon notification of the + screen

If the diagnosis is confirmed

Specialty Care Management

Resources

Links

For Professionals

For Parents

Services

Newborn Screening Programs

Pediatric Genetics

Helpful Articles

Authors