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Screening & Prevention >> Newborn Screening >> Fatty Acid Oxidation Disorders >> VLCADD

VLCADD

Disorder Category

a fatty acid oxidation disorder

Screening

Finding

elevated C14:1 +/- (acylcarnitine)

Tested By

tandem mass spectrometry (MS/MS); sensitivity=100%; specificity=99.99% [Schulze: 2003]

Names

VLCADD

Very long chain acyl-CoA dehydrogenase deficiency

ACADVL deficiency

ICD-9

277.85, Disorders of fatty acid oxidation

Overview

During prolonged fasting and/or periods of increased energy demands (fever, stress, lack of sleep) energy production relies increasingly on fat metabolism. VLCAD enzyme deficiency (an intramitochondrial defect in the beta-oxidation of fatty acids) impairs this form of energy production, causing metabolic crisis, cardiomyopathy, muscle pain, or myoglobinuria. Variants exist including "Early," "Childhood," and "Adult". Sudden infant deaths may occur as a result of cardiac abnormalities.

Prevalence

about 1/250,000 live births [Schulze: 2003]

Inheritance

autosomal recessive

Maternal and Family History

There may be a family history of Sudden Infant Death Syndrome (SIDS).

Prenatal Testing

DNA testing or enzyme analysis by amniocentesis or CVS.

Clinical Characteristics

With treatment, risk of sudden death appears to be reduced. Without treatment, sudden cardiac death is common in the early childhood form. Symptoms of the "early" type may begin between birth and four months of age while the "childhood" type may begin in later infancy or early childhood especially after fasting or illness. The "adult" type may begin in adolescence or adulthood and may be triggered by prolonged exercise. Symptoms may be mild or severe.

Initial signs/symptoms in the "early" and "childhood" types may include:
  • poor feeding,
  • vomiting,
  • diarrhea,
  • irritability,
  • behavior changes,
  • extreme sleepiness,
  • muscle weakness,
  • lethargy, and
  • lab findings:
    • metabolic acidosis, and
    • hypoglycemia.


If not treated promptly, patients may experience:
  • heatomegaly,
  • difficulty breathing,
  • muscle weakness with exertion,
  • arrhythmia,
  • cardiomyopathy,
  • seizures,
  • brain damage, and
  • death.


"Adult" type symptoms may include:
  • muscle breakdown,
  • muscle aches,
  • weakness,
  • cramps,
  • reddish-brown urine, and
  • kidney failure.

Follow-up on positive screening test

Quantitative plasma acylcarnitine profile, mutation analysis of the VLCAD gene, enzyme assay in fibroblasts, and additional biochemical genetic tests.

Primary care management

Upon notification of the + screen

  • contact the family and evaluate the infant for poor feeding, lethargy, hypotonia, hepatomegaly, or cardiac problems;
  • Provide emergency treatment/referral for symptoms of hypoglycemia, arrhythmia, or cardiac decompensation;
  • 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 VLCADD info for parents, STAR-G for additional information);
  • Assist with implementation of a low-fat, high carbohydrate diet;
  • Oral L-carnitine and medium chain triglyceride (MCT) oil supplements may be indicated;
  • Cornstarch supplements and avoidance of long chain fatty acids may also be indicated;
  • For those identified after irreversible consequences, assist in management, particularly with developmental and educational interventions.

Specialty Care Management

Initial consultation and ongoing collaboration if the child is affected. A dietician may work with the family to devise an optimal approach to dietary management.

Resources

Links

For Professionals

VLCADD 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 VLCADD from ACMG (pdf 99kb)
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.

VLCADD Emergency Protocol
A protocol for management of the patient with a positive screen for VLCADD, from the New England Consortium of Metabolic Programs.

VLCADD, OMIM
Extensive review of the literature, including clinical features and gene therapy, 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.

For Parents

VLCADD info for parents, STAR-G
From the Screening, Technology and Research in Genetics (STAR-G) site, providing information for parents about VLCADD and links to other sites including parent support groups.

VLCADD, Genetics Home Reference
Excellent, detailed review aimed at patients and families from the National Library of Medicine's Genetics Home Reference site.

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.

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 VLCADD 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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