Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCADD)
Screening
Tested By
Tandem mass spectrometry (MS/MS); sensitivity=100%; specificity=99.99% [Schulze: 2003]Overview
During prolonged fasting and periods of increased energy demands (fever, stress, vomiting, diarrhea), energy production increasingly relies on fat metabolism. Because short-chain acyl-CoA dehydrogenase deficiency (SCADD) (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 children with SCADD never have symptoms and are usually healthy. This condition usually requires no treatment.Incidence
1:83,300 [Schulze: 2003]Maternal & Family History
SCADD may be associated with maternal acute fatty liver of pregnancy and HELLP syndrome.Clinical Characteristics
The impact of treatment is unknown. Most patients identified by newborn screening will be asymptomatic; however, some affected infants may present with:- Vomiting
- Lethargy
- Seizures
- Hypoketotic hypoglycemia
- Failure to thrive
- Muscle weakness
- Developmental delay
- Seizures
- Metabolic acidosis
- Pain and weakness, especially after exertion
- Episodes of nausea, vomiting, and shortness of breath
Follow-up Testing after Positive Screen
Follow-up usually involves a quantitative plasma acylcarnitine profile, urine organic acids (increased ethylmalonic acid), and urine acylglycine analysis. SCADD must be differentiated from other causes of elevated C4, such as ethylmalonic encephalopathy, which is a much more serious condition and isobutyrylglycinuria, a very rare condition associated in 1 case with cardiomyopathy.Primary Care Management
Upon Notification of the + 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.
- To confirm the diagnosis, work with the following service(s): Newborn Screening Services (see MT providers [5]).
- For evaluation and ongoing collaborative management, consult the following service(s): Pediatric Genetics (see MT providers [7]).
If the Diagnosis is Confirmed
- Educate the family regarding the benign clinical course of this condition (see Short-Chain Acyl-CoA Dehydrogenase Deficiency - Information for Parents (STAR-G)).
Specialty Care Collaboration
Refer for initial consultation and ongoing collaboration with the following service(s): Pediatric Genetics (see MT providers [7]). A dietician may work with the family to devise an optimal approach to dietary management.Resources
Information & Support
For Professionals
Short-Chain Acyl-CoA Dehydrogenase Deficiency (GeneReviews)
An expert-authored, peer-reviewed, current disease description that applies genetic testing to diagnosis and management information;
sponsored by the U.S. National Center for Biotechnology Information, U.S. National Library of Medicine.
Short-Chain Acyl-CoA Dehydrogenase Deficiency (OMIM)
Extensive review of literature providing technical information for providers on genetic disorders; Online Mendelian Inheritance
in Man site, hosted by Johns Hopkins University.
National Newborn Screening & Global Resource Center (NNSGRC)
Fact sheets, data reports, publications, and information for clinicians about genetic screening that includes links to state
genetic contacts.
Genetics in Primary Care Institute (AAP)
Contains health supervision guidelines and other useful resources for the care of children with genetic disorders; American
Academy of Pediatrics.
For Parents and Patients
Short-chain Acyl-CoA Dehydrogenase 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 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
ACT Sheet for Elevated C4 Acylcarnitine (ACMG) (
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) ()
Contains short-term recommendations for clinical follow-up of the newborn who has screened positive; American College of Medical
Genetics.
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.
Services in Montana
Newborn Screening Services
See all Newborn Screening Services 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 in children
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.
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