Home > Newborn Disorders > Short-chain acyl-CoA deficiency (SCADD)
Short-chain acyl-CoA deficiency (SCADD)
Screening
Tested By
tandem mass spectrometry (MS/MS); sensitivity=100%; specificity=99.99% [Schulze: 2003]Names
Short-chain acyl-CoA deficiency (SCADD)
Short chain acyl-CoA dehydrogenase deficiency
SCAD
Acyl-CoA dehydrogenase short chain (ACADS)
Overview
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.Prevalence
1/83,300 [Schulze: 2003]Maternal and 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 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 on positive screening test
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): Utah Newborn Screening Program, (801-584-8256); See also Services below
- For evaluation and ongoing collaborative management, consult the following service(s): Medical Genetics, (801-231-3599); 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 (SCADD) info 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): Medical Genetics, (801-231-3599); See also Services below. A dietician may work with the family to devise an optimal approach to dietary management.Resources
Information & Support
For Professionals
Short-chain acyl-CoA deficiency (SCADD) info for professionals (STAR-G)
On the Screening, Technology and Research in Genetics (STAR-G) site, one of a series of Disorder Fact Sheets for Professionals;
structured list of information about the condition, with links to more information.
ACT Sheet for elevated C4 Acylcarnitine (ACMG)
(
349 KB)
Developed by the American College of Medical Genetics (ACMG), includes recommended responses to positive newborn screening
test results, diagnostic evaluation, clinical expectations, and sources of additional information. See the ACMG ACT Sheets
and Confirmatory Algorithms (link elsewhere on this page) for more info and sheets on other conditions.
ACT Sheets and Confirmatory Algorithms (ACMG)
The American College of Medical Genetics (ACMG) has developed ACTion (ACT) Sheets and algorithms for responding to positive
newborn screening test results. This page contains a table with links to all of the ACT Sheets and related algorithms.
Short-chain acyl-CoA deficiency (SCADD) Acute Illness Protocol (NECMP)
A guideline for healthcare 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.
Resources for SCADD (NLM)
Comprehensive compilation of links to information, articles, research, case studies, genetics, and more; from the National
Library of Medicine and the 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.
Utah Newborn Screening Program
The site provides information and statistics about the program and related legislation, training for practices, and the conditions
screened for.
For Parents and Patients
Short-chain acyl-CoA deficiency (SCADD) info for parents (STAR-G)
From the Screening, Technology and Research in Genetics (STAR-G) site, providing information for parents about SCADD and links
to other sites including parent support groups.
Fatty Oxidation Disorders (FOD) Family Support Group
The FODsupport.org site offers a variety of information for families about fatty acid oxidation disorders, support groups,
coping, finances, and links to other sites.
Organic Acidemia Association (OAA)
A non-profit organization that provides information for parents and providers; newsletters; event information; connections
with other parents; a listserv; a discussion board; information about nutrition and recipes; translation of their web pages
into five other languages; hosting of the Propionic Acidemia Research Network and other research funds; and links to other
sites.
Services
Newborn Screening Programs
Utah Newborn Screening Program,
more info...
44 Mario Capecchi Drive
Salt Lake City, UT 84114
Phone: 801-584-8256
Fax: 801-536-0966
http://health.utah.gov/newbornscreening
Pediatric Medical Genetics
See all Pediatric Medical Genetics services providers (3) in our database.
For other services related to this condition, browse our Services categories or search our database.
Helpful Articles
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.
Authors
| 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