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 [4]).
- 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)
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
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.
Services for Patients & Families in Montana (MT)
| Service Categories | # of providers* in: | MT | NW | Other states (4) (show) | | NM | NV | RI | UT |
|---|---|---|---|---|---|---|---|---|---|
| Newborn Screening Services | 4 | 1 | 1 | 2 | 1 | 3 | |||
| Pediatric Genetics | 7 | 1 | 4 | 4 | 4 | 6 | |||
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 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