Newborn Screening
Isobutyryl-CoA Dehydrogenase Deficiency
Guidance for primary care clinicians receiving a positive newborn screen result
Description
Clinical Characteristics
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 OH providers [1]). Confirmation is necessary given the differential diagnosis for an elevated C4 level that includes short-chain acyl-CoA dehydrogenase (SCAD) deficiency and ethylmalonic acidemia.
- 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 OH providers [0]).
- No special diet is necessary for this condition.
Resources
Information & Support
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
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 in Ohio (OH)
Service Categories | # of providers* in: | OH | NW | Other states (4) (show) | | NM | NV | RI | UT |
---|---|---|---|---|---|---|---|---|---|
Biochemical Genetics (Metabolics) | 1 | 1 | 2 | 3 | 2 | ||||
Medical Genetics | 1 | 2 | 5 | 4 | 7 | ||||
Newborn Screening Services | 1 | 3 | 2 | 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.
Sadat R, Hall PL, Wittenauer AL, Vengoechea ED, Park K, Hagar AF, Singh R, Moore RH, Gambello MJ.
Increased parental anxiety and a benign clinical course: Infants identified with short-chain acyl-CoA dehydrogenase deficiency
and isobutyryl-CoA dehydrogenase deficiency through newborn screening in Georgia.
Mol Genet Metab.
2020;129(1):20-25.
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
Authors: | Kimberly Stowers, MD |
Hannah Holik, MD | |
Senior Author: | Brian J. Shayota, MD, MPH |
2018: update: Nicola Longo, MD, Ph.D.A |
2011: first version: Nicola Longo, MD, Ph.D.A |
Page Bibliography
Sadat R, Hall PL, Wittenauer AL, Vengoechea ED, Park K, Hagar AF, Singh R, Moore RH, Gambello MJ.
Increased parental anxiety and a benign clinical course: Infants identified with short-chain acyl-CoA dehydrogenase deficiency
and isobutyryl-CoA dehydrogenase deficiency through newborn screening in Georgia.
Mol Genet Metab.
2020;129(1):20-25.
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