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Screening & Prevention >> Newborn Screening >> Fatty Acid Oxidation Disorders >> Short-chain acyl-CoA deficiency (SCADD)

Short-chain acyl-CoA deficiency (SCADD)

Disorder Category

a fatty acid oxidation disorder

Screening

Finding

elevated C4 (butyrylcarnitine)

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)

ICD-9

277.85, Disorders of fatty acid oxidation

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.

Prevalence

1/83,300 [Schulze: 2003]

Inheritance

autosomal recessive

Maternal and 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 screeing will be asymptomatic, however without treatment affected infants may present with:
  • vomiting,
  • lethargy,
  • seizures, and
  • hypoketotic hypoglycemia.


Subsequent symptoms may occur including:
  • failure to thrive,
  • muscle weakness,
  • developmental delay,
  • seizures, and
  • metabolic acidosis.


An adult form of SCADD affects only the muscles and may cause:
  • pain and weakness, especially after exertion; and
  • episodes of nausea, vomiting, and shortness of breath.

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.

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): Metabolic Clinic, (801-585-2457); 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 Management

Initial consultation and ongoing collaboration with the following service(s): Metabolic Clinic, (801-585-2457); See also Services below. A dietician may work with the family to devise an optimal approach to dietary management.

Resources

Links

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 Short-chain acyl-CoA deficiency (SCADD) from ACMG (pdf 68kb)
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.

ACMG ACT Sheets and Confirmatory Algorithms
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), 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.

Short-chain acyl-CoA deficiency (SCADD) emergency protocol
A protocol for acute management of the symptomatic patient with Short-chain acyl-CoA deficiency (SCADD), from the New England Consortium of Metabolic Programs.

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

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, UT84114
Phone: 801-584-8256
Fax: 801-536-0966
http://health.utah.gov/newbornscreening

Pediatric Genetics

Metabolic Clinic, more info...
100 Mario Capecchi Drive
Salt Lake City, UT84113
Phone: 801-585-2457
Fax: 585-7252
http://www.ped.med.utah.edu/divisions/divisions.htm

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.

Helpful Articles

PubMed search for articles on short-chain acyl-CoA dehydrogenase deficiency (SCADD) in the last 5 years.

Authors

Reviewing Author: Nicola Longo MD, PhD, 3/2007
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
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