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Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCADD)

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Guidance for primary care clinicians receiving a positive newborn screen result

Other Names

SCAD deficiency

ICD-10 Coding

E71.312, Short-chain acyl-CoA dehydrogenase deficiency

Disorder Category

A fatty acid oxidation disorder

Screening

Abnormal Finding

Elevated C4 (butyrylcarnitine)

Tested By

Tandem mass spectrometry (MS/MS); sensitivity=100%; specificity=99.99% [Schulze: 2003]

Description

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is now regarded by most as a benign biochemical phenotype rather than an actual human disorder. This shift occurred after SCADD had been added to the expanded newborn screen, and far more than expected, including healthy older siblings, were found to have the condition. In follow-up studies of those diagnosed by newborn screening, the vast majority have remained asymptomatic without requiring any treatment. [Tonin: 2016] [Gallant: 2012]

Clinical Characteristics

Most newborns diagnosed with SCADD through newborn screening will never develop any clinical symptoms without treatment. Historically, there has been a wide range of reported symptoms, including feeding difficulties, failure to thrive, developmental delays, hypoglycemia, hypotonia, dystonia, seizures, and metabolic acidosis. Subsequent studies, however, have not reported any of the above symptoms at any clinically significant rate, and it is generally considered benign.

Incidence

Estimates of the overall incidence range from 1:35,000 to 1:50,000. [Gallant: 2012] [Tonin: 2016] A particularly high prevalence of the condition has been noted in the Roma ethnic group in Slovakia at 1:100 live newborns. [Lisyová: 2018]

Inheritance

Autosomal recessive

Primary Care Management

Next Steps After a Positive Screen

  • Contact the family and evaluate the infant for poor feeding, vomiting, and lethargy.
  • Provide emergency treatment/referral for signs or symptoms of hypoglycemia, lethargy, and metabolic acidosis. This is not usually expected as it is generally a benign finding.

Confirming the Diagnosis

  • To confirm the diagnosis, work with Newborn Screening Services (see OH providers [1]).
  • Follow-up testing usually involves a quantitative plasma acylcarnitine profile, urine organic acids, and urine acylglycine analysis. SCADD must be differentiated from other causes of elevated C4, such as isobutyrylglycinuria, likely another benign biochemical phenotype, and ethylmalonic encephalopathy, a much more serious condition.

If the Diagnosis is Confirmed

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

Short-Chain Acyl-CoA Dehydrogenase Deficiency (GeneReviews)
Detailed information addressing clinical characteristics, diagnosis/testing, management, genetic counseling, and molecular pathogenesis; from the University of Washington and the National Library of Medicine.

Short-Chain Acyl-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

Short-chain Acyl-CoA Dehydrogenase Deficiency (MedlinePlus)
Information for families that includes description, frequency, causes, inheritance, other names, and additional resources; from the National Library of Medicine.

Short-Chain Acyl-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: SCADD (Genetic Alliance)
Information about early signs, follow-up testing, treatment, accessing care, and expected outcomes. Provides links to support services.

Fatty Oxidation Disorders (FOD) Family Support Group
Information for families about fatty acid oxidation disorders, support groups, coping, finances, and links to other sites.

Tools

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 Ohio (OH)

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

Nochi Z, Olsen RKJ, Gregersen N.
Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.
J Inherit Metab Dis. 2017;40(5):641-655. PubMed abstract

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

Gallant NM, Leydiker K, Tang H, Feuchtbaum L, Lorey F, Puckett R, Deignan JL, Neidich J, Dorrani N, Chang E, Barshop BA, Cederbaum SD, Abdenur JE, Wang RY.
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
Mol Genet Metab. 2012;106(1):55-61. PubMed abstract

Authors & Reviewers

Initial publication: March 2007; last update/revision: November 2023
Current Authors and Reviewers:
Authors: Kimberly Stowers, MD
Hannah Holik, MD
Senior Author: Brian J. Shayota, MD, MPH
Reviewer: Nancy C. Rose, MD
Authoring history
2023: update: Kimberly Stowers, MDA; Hannah Holik, MDA; Brian J. Shayota, MD, MPHSA
2017: update: Nicola Longo, MD, Ph.D.A
2011: first version: Nicola Longo, MD, Ph.D.A
AAuthor; CAContributing Author; SASenior Author; RReviewer

Page Bibliography

Gallant NM, Leydiker K, Tang H, Feuchtbaum L, Lorey F, Puckett R, Deignan JL, Neidich J, Dorrani N, Chang E, Barshop BA, Cederbaum SD, Abdenur JE, Wang RY.
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
Mol Genet Metab. 2012;106(1):55-61. PubMed abstract

Lisyová J, Chandoga J, Jungová P, Repiský M, Knapková M, Machková M, Dluholucký S, Behúlová D, Šaligová J, Potočňáková Ľ, Lysinová M, Böhmer D.
An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia.
BMC Med Genet. 2018;19(1):64. PubMed abstract / Full Text

Nochi Z, Olsen RKJ, Gregersen N.
Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.
J Inherit Metab Dis. 2017;40(5):641-655. PubMed abstract

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

Schulze A, Lindner M, Kohlmuller D, Olgemoller K, Mayatepek E, Hoffmann GF.
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.
Pediatrics. 2003;111(6 Pt 1):1399-406. PubMed abstract

Tonin R, Caciotti A, Funghini S, Pasquini E, Mooney SD, Cai B, Proncopio E, Donati MA, Baronio F, Bettocchi I, Cassio A, Biasucci G, Bordugo A, la Marca G, Guerrini R, Morrone A.
Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation.
BBA Clin. 2016;5:114-9. PubMed abstract / Full Text