Short-chain acyl-CoA deficiency (SCADD)

Other Names

Short chain acyl-CoA dehydrogenase deficiency


Acyl-CoA dehydrogenase short chain (ACADS)

Diagnosis Coding

E71.312, short chain acyl CoA dehydrogenase deficiency

Disorder Category

A fatty acid oxidation disorder



Elevated C4 (butyrylcarnitine)

Tested By

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


During prolonged fasting and/or periods of increased energy demands (fever, stress, vomiting, diarrhea), energy production relies increasingly on fat metabolism. Because SCAD deficiency (the result of an intramitochondrial defect in the beta-oxidation of fatty acids) may impair this form of energy production, metabolic crisis may result. However, for reasons that are not yet understood, most chlidren with SCADD never have symptoms and are usually healthy.


1:83,300 [Schulze: 2003]


Autosomal recessive

Maternal & Family History

SCADD may be associated with maternal acute fatty liver of pregnancy and HELLP syndrome.

Prenatal Testing

DNA testing or enzyme analysis by amniocentesis or CVS.

Clinical Characteristics

The impact of treatment is unknown. Most patients identified by newborn screening will be asymptomatic, however without treatment affected infants may present with:
  • Vomiting
  • Lethargy
  • Seizures
  • Hypoketotic hypoglycemia
Subsequent symptoms may occur including:
  • Failure to thrive
  • Muscle weakness
  • Developmental delay,
  • Seizures
  • Metabolic acidosis
An adult form of SCADD affects only the muscles and may cause:
  • Pain and weakness, especially after exertion
  • Episodes of nausea, vomiting, and shortness of breath
Milder variants of this condition are very frequent in the general population and usually do not require treatment. Even severe forms usually cause no symptoms even though they might aggravate co-existing conditions.
Treatment consists of carnitine supplementation, low-fat diet and fasting avoidance. Again, this is rarely needed.

Follow-up Testing after Positive Screen

Quantitative plasma acylcarnitine profile, urine organic acids (increased ethylmalonic acid), enzyme assay in fibroblasts; DNA analysis for common SCAD mutations. SCAD deficiency must be differentiated from other causes of elevated C4 such as ethylmalonic encephalopathy that is a much more serious condition.

Primary Care Management

Upon Notification of the + Screen

  • Contact the family and evaluate the infant for poor feeding, vomiting, lethargy.
  • Provide emergency treatment/referral for signs or symptoms of hypoglycemia, lethargy, metabolic acidosis (see for additional information).
  • To confirm the diagnosis, work with the following service(s): see all Newborn Screening Programs services providers (3) in our database.
  • For evaluation and ongoing collaborative management, consult the following service(s): Pediatric Medical Genetics , (801-213-3599); 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 Short-Chain Acyl-CoA Deficiency - Information for Parents (STAR-G) for additional information).
  • Support the implementation of frequent, low fat, high carbohydrate meals.
  • Oral L-carnitine and riboflavin may be indicated for some children.

Specialty Care Collaboration

Initial consultation and ongoing collaboration with the following service(s): Pediatric Medical Genetics , (801-213-3599); See also Services below. A dietician may work with the family to devise an optimal approach to dietary management.


Information & Support

For Professionals

Short-Chain Acyl-CoA Deficiency Acute Illness Protocol (NECMP)
A guideline for health care 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.

Short-Chain Acyl-CoA Deficiency (SCADD) - Information for Professionals
Structured list of information about the condition and links to more information; Screening, Technology, and Research in Genetics.

Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCADD) (GeneReviews)
Excellent and extensive review by Lynne Wolfe, MS, CRNP, BC, Reena Jethva, MD, Devin Oglesbee, PhD, and Jerry Vockley, MD, PhD on the GeneReviews site; includes causes, evaluation strategy, genetic counseling, management, resources, and references; U.S. Library of Medicine.

Resources for SCADD (Disease InfoSearch)
Compilation of information, articles, research, case studies, and genetics links; from Genetic Alliance.

Short-Chain Acyl-CoA 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.

Newborn Screening ACT Sheets & Confirmatory Algorithms (ACMG)
ACTion (ACT) Sheets and algorithms for responding to positive newborn screening test results, membership required; American College of Medical Genetics.

Newborn Screening Information for Clinicians (NNSGRC)
Fact sheets, data reports, publications ,and information for clinicians about genetic screening that includes links to state genetic contacts; National Newborn Screening & Global Resource Center.

Genetics in Primary Care Institute (AAP)
The goal of this site is to increase collaboration in the care of children with known or suspected genetic disorders. Includes health supervision guidelines and other useful resources; a collaboration among the Health Resources & Services Administration, the Maternal and Child Health Bureau, and the American Academy of Pediatrics.

Orphanet is a consortium involving over 40 countries and coordinated in France to provide a portal for information about rare diseases and orphan drugs.

Utah Newborn Screening Program (UDOH)
Provides information about the program, related legislation, training for practices, and newborn conditions; Utah Department of Health.

For Parents and Patients


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


Short-chain Acyl-CoA Deficiency (Genetics Home Reference)
Excellent, detailed review of condition for patients and families; sponsored by the U.S. National Library of Medicine.

Short-Chain Acyl-CoA 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 (Genetic Alliance)
A clearinghouse for newborn screening information. Provides resources about screening at the local, state, and national levels and ways for people to share their viewpoints and questions about newborn screening.

Newborn Screening Information For Families (NNSGRC)
Information for families about genetic screening; links to support groups, advocacy groups, and state genetic contacts; newsletters; factsheets; data reports; and publications; National Newborn Screening and Global Resource Center.

Organic Acidemia Association (OAA)
A nonprofit organization that provides information, newsletters, calendars of events, connections with other parents, a listserv, a discussion board, and nutrition and recipe ideas.

Utah Parent Center
A non-profit organization that provides training, information, referral, and assistance to parents of children and youth with all disabilities including physical, mental, hearing, vision, learning, behavioral, and emotional. Staff consists primarily of parents of children and youth with disabilities.

Center for Parent Information and Resources (DOE)
A large resource library related to children with disabilities. Parent Centers in every state provide training to parents of children with disabilities. Lists local conferences, support groups, advocacy tips, and suggestions for finding schools and other local services; Department of Education, Office of Special Education.


ACT Sheet for Elevated C4 Acylcarnitine (ACMG) (PDF Document 349 KB)
Contains short-term recommendations for clinical follow-up of the newborn who has screened positive; American College of Medical Genetics.

Confirmatory Algorithm for Elevated C4 Acylcarnitine (ACMG)
Resource for clinicians to help confirm diagnosis; American College of Medical Genetics.


Genetics-related clinical services throughout the world can be found through Genetics Clinic Directory (GeneTests).

Newborn Screening Programs

See all Newborn Screening Programs services providers (3) in our database.

Pediatric Genetics

See all Pediatric Genetics services providers (5) in our database.

For other services related to this condition, browse our Services categories or search our database.

Helpful Articles

PubMed search for short-chain acyl-CoA dehydrogenase deficiency (SCADD) and neonatal screening, last 10 years.

Viscomi C, Burlina AB, Dweikat I, Savoiardo M, Lamperti C, Hildebrandt T, Tiranti V, Zeviani M.
Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy.
Nat Med. 2010;16(8):869-71. PubMed abstract / Full Text
Dual treatment of oral metronidazole and N-acetylcysteine caused marked clinical improvement in five affected children, with hardly any adverse or side effects.


Author: Nicola Longo, MD, PhD - 7/2011
Compiled and edited by: Alfred Romeo, RN, PhD - 3/2007
Content Last Updated: 3/2008

Page Bibliography

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