Home > Newborn Disorders > MCADD
MCADD
Screening
Finding
elevated C8 (octanoylcarnitine) with lesser elevations of C6 (hexanoylglycine) and C10:1 (decenoyl carnitine)Tested By
tandem mass spectrometry (MS/MS); sensitivity=100%; specificity=99.98% [Schulze: 2003]Overview
MCADD is one of several enzymes involved in the beta-oxidation of fatty acids within mitochondria. MCAD deficiency impairs hepatic ketogenesis, resulting in hypoketotic hypoglycemia during prolonged fasting and/or periods of increased energy demands (acute illness, fever).Prevalence
about 1/15,600 live births; [Schulze: 2003] most common in Northern Europeans and US CaucasiansClinical Characteristics
With treatment, prognosis is excellent. Without treatment, episodes of hypoketotic hypoglycemic, accompanied by lethargy and vomiting, may lead to seizures, coma, cardiac arrest, and death. Symptoms typically begin between birth and 2 years of age, though some affected individuals do not present till adulthood.Initial symptoms/signs may include:
- poor feeding,
- vomiting,
- lethargy progressing to coma,
- lab findings:
- hyperammonemia, and
- hypoglycemia.
Subsequent symptoms/signs may include:
- hepatomegaly,
- liver dysfunction,
- seizures,
- encephalopathy, and
- sudden death.
Follow-up on positive screening test
Quantitative plasma acylcarnitine profile, urine acylglycine (increased hexanonylglycine), urine organic acids. Diagnosis is confirmed by DNA analysis.Primary care management
Upon notification of the + screen
- Contact the family and evaluate the infant for related symptoms
- Provide emergency treatment/referral for symptoms of hypoglycemia, lethargy, feeding problems
- 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, the need for frequent feedings, and the need for urgent care when the infant becomes ill (see MCADD info for parents (STAR-G) for additional information); provide an "emergency" letter guiding caregivers in the appropriate response to acute illness (and an MedicAlert bracelet for older kids and adults)
- Frequent, low fat, high carbohydrate meals and snacks may be indicated for affected children
- Glucose may be indicated during hypoglycemic episodes
- Oral L-carnitine may be recommended for some children
- For those identified after irreversible consequences, assist in management, particularly with developmental and educational interventions
- See also the Diagnosis Module on MCADD
Specialty Care Collaboration
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.See also the MCADD Diagnosis Module.
Resources
Information & Support
For Professionals
MCADD 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 MCADD (ACMG)
(
348 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.
MCADD Acute Illness Protocol (NECMP)
( 17 KB)
A guideline for healthcare professionals treating the sick infant/child who has previously been diagnosed with MCADD; 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.
MCADD (GeneReviews)
Excellent review by Detrich Matern, MD and Piero Rinaldo, MD, PhD including clinical description, differential, management,
genetic counseling, molecular genetics, and a bibliography.
Resource for MCADD (NLM)
Comprehensive compilation of links to information, articles, research, case studies, genetics, and more; from the National
Library of Medicine and the Genetic Alliance.
For Parents and Patients
MCADD info for parents (STAR-G)
From the Screening, Technology and Research in Genetics (STAR-G) site, providing information for parents about MCADD and links
to other sites including parent support groups.
MCADD (Genetics Home Reference)
Excellent, detailed review aimed at patients and families from the National Library of Medicine's Genetics Home Reference
site.
MCAD: A Guide for Parents
( 618 KB)
From the Western States Genetic Services Collaborative, this 8-page guide provides information about Medium Chain Acyl-CoA
Dehydrogenase Deficiency including an overview; social concerns; sample treatment plan; glossary; regional resources; references
and more.
MCAD: A Guide for Parents (Spanish)
( 202 KB)
Spanish translation of an 8-page guide provides information about Medium Chain Acyl-CoA Dehydrogenase Deficiency including
an overview; social concerns; sample treatment plan; glossary; regional resources; references and more; from the Western States
Genetic Services Collaborative.
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.
National Newborn Screening & Genetics Resource Center
Provides information for families and professionals about genetic screening; links to support and advocacy groups; links to
state genetic contacts; newsletters; fact sheets; data reports; publications; and more.
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
PubMed search on Neonatal Screening for MCADD
Leonard JV, Dezateux C.
Newborn screening for medium chain acyl CoA dehydrogenase deficiency.
Arch Dis Child.
2009;94(3):235-8.
PubMed abstract
Authors
| Author: | Nicola Longo MD, PhD, 3/2007 |
| Compiled and edited by: | Alfred Romeo RN, PhD, 3/2007 |
| Content Last Updated: | 7/2010 |
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