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

MCADD

Disorder Category

a fatty acid oxidation disorder

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]

Names

MCADD

Medium chain acyl-CoA dehydrogenase deficiency (MCAD, MCADD)

ACADM

MCADH

ICD-9

277.85, Disorders of fatty acid oxidation

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 Caucasians

Inheritance

autosomal recessive

Prenatal Testing

DNA testing or enzyme analysis by amniocentesis or CVS.

Clinical 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

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.

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

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 from ACMG
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.

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

MCADD GeneTest
Excellent review by Detrich Matern, MD and Piero Rinaldo, MD, PhD including clinical description, differential, management, genetic counseling, molecular genetics, and a bibliography.

For Parents

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
From the Pacific Northwest Regional Genetics Group (PacNoRGG), 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 (2007).

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, UT 84114
Phone: 801-584-8256
Fax: 801-536-0966
http://health.utah.gov/newbornscreening

Pediatric Genetics

See all Pediatric Genetics services providers (4) 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

Authors

Reviewing Author: Nicola Longo, 3/2007
Compiled and edited by: Alfred Romeo, 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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