Get Help in New MexicoVery Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD)
Guidance for primary care clinicians receiving a positive newborn screen result
Description
Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) impairs energy production from fat sources within the body. Metabolic stress, when energy production relies on fat metabolism, can cause a metabolic crisis, presenting with rhabdomyolysis, hypoketotic hypoglycemia, and cardiomyopathy. Common triggers include prolonged fasting, infectious illnesses, fever, or excessive physical activity. There is considerable variability in severity recognized with VLCAD deficiency, ranging from a severe early-onset form with neonatal multiorgan failure to the later-onset form with isolated episodic myopathy. Sudden infant deaths may occur as a result of cardiac dysfunction or arrhythmia.
Clinical Characteristics
- Symptom onset <12 months of age
- Muscle weakness and hypotonia
- Hypertrophic or dilated cardiomyopathy
- Arrhythmias
- Failure to thrive
- Poor feeding/vomiting
- Hypoketotic hypoglycemia
- Lethargy
- Multiorgan failure
- Hypoketotic hypoglycemia
- Hepatomegaly
- Muscle weakness
- Arrhythmia
- Exercise intolerance
- Muscle cramps
- Intermittent rhabdomyolysis
- Reddish-brown urine (myoglobinuria)
- Acute kidney injury
Incidence
Primary Care Management
Next Steps After a Positive Screen
- Contact the family and evaluate the infant for poor feeding, lethargy, hypotonia, hepatomegaly, or cardiac problems. Even mildly ill infants should receive immediate interventions including IV glucose.
- Provide emergency treatment and referral for symptoms of hypoglycemia, arrhythmia, or cardiac decompensation.
- Recommend frequent feeding (at least every 3 hours in newborns), including at night.
Confirming the Diagnosis
- To confirm the diagnosis of VLCADD, work with Newborn Screening Services (see NM providers [3]).
- Follow-up testing may include quantitative plasma acylcarnitine profile, total/free carnitine, and variant analysis of the VLCAD gene.
If the Diagnosis is Confirmed
- Evaluate and continue ongoing collaborative management and consult Medical Genetics (see NM providers [2]).
- Educate the family about signs, symptoms, and the need for urgent care if the infant becomes ill. See VLCADD - Information for Parents (STAR-G) for additional information.
- Assist with implementation of a low-fat diet supplemented with medium-chain triglycerides if necessary.
- Consider oral L-carnitine and medium-chain triglyceride (MCT) oil supplements.
- Assist in the management of supportive care as necessary, particularly with developmental and educational interventions. Refer to Early Intervention for Children with Disabilities/Delays (see NM providers [34]) as needed.
Resources
Information & Support
Related Portal Content
VLCADD
Assessment and management information for the primary care
clinician caring for the child with VLCAD deficiency.
For Professionals
VLCADD (GeneReviews)
Clinical characteristics, diagnosis/testing, management, genetic counseling, and molecular pathogenesis; from the University
of Washington and the National Library of Medicine.
VLCADD (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
Communicating Newborn Screening Results to Families (ACHDNC)
One-page guide to help clinicians effectively communicate positive newborn screening results to parents; Advisory Committee
on Heritable Disorders in Newborns and Children.
For Parents and Patients
VLCADD - 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 a newborn disorder; Screening, Technology and Research in Genetics.
Very long-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.
Resources for VLCAD Deficiency (Disease InfoSearch)
Compilation of information, articles, research, case studies, and genetics links; from Genetic Alliance.
Tools
NM ACT Sheet for VLCADD (
137 KB)
Provides recommendations for clinical and laboratory follow-up of the newborn with out-of-range screening results, along with
national and local resources for clinicians and families; American College of Medical Genetics.
Confirmatory Algorithm for VLCADD (ACMG) ( 164 KB)
An algorithm of the basic steps involved in determining the final diagnosis of an infant with a positive newborn screen; American
College of Medical Genetics.; American College of Medical Genetics.
Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) (NECMP)
A guideline for health care professionals treating the sick infant or child with VLCADD; 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.
Services for Patients & Families in New Mexico (NM)
| Service Categories | # of providers* in: | NM | NW | Other states (3) (show) | | NV | RI | UT |
|---|---|---|---|---|---|---|---|---|
| Early Intervention for Children with Disabilities/Delays | 34 | 3 | 30 | 13 | 51 | |||
| Medical Genetics | 2 | 1 | 5 | 4 | 7 | |||
| Newborn Screening Services | 3 | 1 | 2 | 2 | 3 | |||
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.
Studies
Very Long Chain Acyl-CoA Dehydrogenase Deficiency (birth-17 years) (ClinicalTrials.gov)
Studies looking at better understanding, diagnosing, and treating this condition; from the National Library of Medicine.
Helpful Articles
PubMed search for VLCADD and neonatal screening, last 5 years.
Page Bibliography
Ficicioglu C, Coughlin CR 2nd, Bennett MJ, Yudkoff M.
Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry.
J Pediatr.
2010;156(3):492-4.
PubMed abstract
Leslie ND, Valencia CA, Strauss AW, Zhang K.
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.
GeneReviews®.
2019.
PubMed abstract
Therrell BL Jr, Lloyd-Puryear MA, Camp KM, Mann MY.
Inborn errors of metabolism identified via newborn screening: Ten-year incidence data and costs of nutritional interventions
for research agenda planning.
Mol Genet Metab.
2014;113(1-2):14-26.
PubMed abstract / Full Text