Isobutyryl-CoA Dehydrogenase Deficiency
Description
Clinical Characteristics
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.
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 NW providers [1]).
- 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) Clinics (see NW providers [1]).
- 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
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
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 (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
ACT Sheet for Elevated C4 Acylcarnitine (ACMG) (
349 KB)
Provides recommendations for clinical and laboratory follow-up of the newborn with out-of-range screening results, along with
national resources for clinicians and families; American College of Medical Genetics.
Confirmatory Algorithm for SCADD/Elevated C4 (ACMG) ( 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 Nationwide (NW)
| Service Categories | # of providers* in: | NW | Partner states (6) (show) | | MT | NM | NV | OH | RI | UT | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Biochemical Genetics (Metabolics) Clinics | 1 | 2 | 1 | 2 | 1 | 1 | 3 | ||||
| Medical Genetics | 1 | 8 | 1 | 5 | 1 | 4 | 6 | ||||
| Newborn Screening Services | 1 | 4 | 1 | 2 | 1 | 2 | 3 | ||||
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