Short-chain acyl-CoA deficiency (SCADD)
Short chain acyl-CoA dehydrogenase deficiency
Acyl-CoA dehydrogenase short chain (ACADS)
277.85, Disorders of fatty acid oxidation
- hypoketotic hypoglycemia
Subsequent symptoms may occur including:
- failure to thrive
- muscle weakness
- developmental delay,
- 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.
- 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 (1) in our database
- For evaluation and ongoing collaborative management, consult the following service(s): Pediatric Medical Genetics, (801-213-3599); See also Services below
- Educate the family regarding signs, symptoms, and the need for urgent care when the infant becomes ill (see Short-Chain Acyl-CoA Deficiency 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
Short-Chain Acyl-CoA deficiency Info for Professionals (STAR-G)
Structured list of information about the condition and links to more information; Screening, Technology, and Research in Genetics.
ACT Sheet for Elevated C4 Acylcarnitine (ACMG) ( 349 KB)
Recommended responses to positive newborn screening test results. Includes diagnostic evaluation, clinical expectations, and sources of additional information; American College of Medical Genetics.
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.
Short-Chain Acyl-CoA Deficiency 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 (UDOH)
Provides information and statistics about the program and related legislation, training for practices, and the conditions screened for; Utah Department of Health.
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 and management guidelines, and other useful resources; a collaboration among the Health Resources & Services Administration, the Maternal & Child Health Bureau, and the American Academy of Pediatrics.
Short-Chain Acyl-CoA Deficiency Info 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.
Fatty Oxidation Disorders (FOD) Family Support Group
Information for families about fatty acid oxidation disorders, support groups, coping, finances, and links to other sites.
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.
See all Newborn Screening Programs services providers (1) in our database.
See all Pediatric Genetics services providers (3) in our database.
For other services related to this condition, browse our Services categories or search our database.
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|
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