Home > Newborn Disorders > Isobutyryl Co-A dehydrogenase deficiency
Isobutyryl Co-A dehydrogenase deficiency
Names
Isobutyryl Co-A dehydrogenase deficiency
IBDH
Isobutyrylglycinuria (IBG)
Acyl-CoA dehydrogenase family, member 8
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.Prevalence
fewer than 5 cases have been identified. [Isobutyryl Co-A dehydrogenase deficiency, info for professionals (STAR-G)]Clinical Characteristics
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. Most patients identified by newborn screening have remained asymptomatic.Treatment consists in canitine supplementation to prevent deficiency.
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): Medical Genetics, (801-231-3599); 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 Collaboration
Initial consultation and ongoing collaboration, particularly for dietary management. Genetic counseling for the family.Resources
Information & Support
For Professionals
Isobutyryl Co-A dehydrogenase deficiency, info for professionals (STAR-G)
From the Screening, Technology and Research in Genetics (STAR-G) program, 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 elevated C4 Acylcarnitine (ACMG)
(
349 KB)
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.
ACT Sheets and Confirmatory Algorithms (ACMG)
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-chain acyl-CoA deficiency (SCADD) Acute Illness Protocol (NECMP)
A guideline for healthcare professionals treating the sick infant/child who has previously been diagnosed with SCADD, a fatty
acid oxidation disorder (FAOD); developed under the direction of Dr. Harvey Levy, Senior Associate in Medicine/Genetics at
Children’s Hospital Boston, and Professor of Pediatrics at Harvard Medical School, for the New England Consortium of Metabolic
Programs.
Resources for Isobutyryl Co-A dehydrogenase deficiency (NLM)
Comprehensive compilation of links to information, articles, research, case studies, genetics, and more; from the National
Library of Medicine and the Genetic Alliance.
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 and Patients
Isobutyryl Co-A dehydrogenase deficiency info for parents (STAR-G)
From the Screening, Technology and Research in Genetics (STAR-G) program, 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.
Services
Newborn Screening Programs
Utah Newborn Screening Program,
more info...
44 Mario Capecchi Drive
Salt Lake City, UT 84114
Phone: 801-584-8256
Fax: 801-536-0966
http://health.utah.gov/newbornscreening
Pediatric Medical Genetics
See all Pediatric Medical Genetics services providers (3) in our database.
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.
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
Authors
| Author: | Nicola Longo MD, PhD, 3/2011 |
| Compiled and edited by: | Alfred Romeo RN, PhD, 3/2007 |
| Content Last Updated: | 4/2011 |