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MCADD - Treatment & Management
Overview
If an individual is identified as having MCADD, either by presentation or by expanded newborn screening, they should be referred to a metabolic geneticist who, along with a specialized metabolic nutritionist, will explain the disorder and its treatment. Treatment prior to the first visit with the specialist should include counseling the parents or the affected individual to avoid fasting and to implement a low-fat diet (after consultation with the metabolic nutritionist). Medium-chain triglycerides should be avoided as these cannot be adequately catabolized without medium chain acyl-CoA dehydrogenase.After diagnosis, the most important aspect of treatment is avoidance of fasting and timely interventions to avoid catabolism when the patient is ill. Safe durations of fasting have only been studied in children who are well. Data in the first six of months are lacking and it is felt that fasting in these children should not exceed 3 to 4 hours. Derks et al have published guidelines that suggest the maximum duration of fasting for well infants with MCADD between 6 months and one year of age not exceed 8 hours. [Derks: 2007] Fasting should not exceed 10 hours between the ages of one and two and not exceed 12 hours for those older than two. If intercurrent illness is present, shorter periods of fasting are necessary and, if necessary, IV fluids with 10% glucose should be given under the direction of the metabolic specialist. MCT oil and foods high in medium-chain fats should be avoided. Supplementation with oral carnitine has not been rigorously proven to be of any benefit; however, secondary carnitine deficiency can develop. No serious side effects have been reported. Supplementation with carnitine should be initiated under the guidance of the metabolic specialist, if deemed necessary.
Primary Care Roles
The role of the primary care physician is to provide ongoing primary care and prompt evaluations during times of illness or increased metabolic stress. There should be a lower threshold for evaluation and less reliance on telephone medicine for these patients. Routine developmental screening and close monitoring for sequelae following any crises are important. The Medical Home should collaborate with subspecialists and support the family with information and availability.Pearls And Alerts
MCT oil and medium-chain triglycerides should be avoided. Because many infant formulas are supplemented with MCT oil, consultation with a metabolic nutritionist is vital.
If surgeries are contemplated, patients should be admitted the night before for administration of appropriate IV fluids to avoid complications from fasting. If the patient is older and is not admitted for IV fluids prior to the procedure, then intraoperative IV fluids containing D10 should be given.
Patients should be counseled to remain hydrated and to have carbohydrate-containing snacks available during periods of strenuous exercise.
Adults should be counseled to avoid prolonged fasting and excessive consumption of alcohol. Admission for provision of IV fluids containing D10 should be considered for all adult patients who may require prolonged pre- and post-operative fasting as well as for women with MCADD during labor and delivery.
Systems
Endocrine/Metabolism
Children with MCADD and their families will also be educated about avoiding fasting. Fasting guidelines include:
- Infants should be fed frequently and not allowed to fast for longer than 3 to 4 hours.
- Between 6 months and one year of age, fasting should not exceed 8 hours.
- Between one and two years of age fasting should not exceed 10 hours and for individuals older than two, fasting should not exceed 12 hours.
- Toddlers may be given 2g/kg uncooked cornstarch at bedtime to supply sufficient glucose overnight.
- IV fluid therapy, preferably with D10 1/4NS at 1.5-2 x maintenance (10 mg/kg/min), should be given to maintain plasma glucose concentrations above 100 mg/dl.
- If D10 is not immediately available, D5 should be infused at a high rate until D10 becomes available.
- If a patient becomes ill, prompt administration of IV glucose is mandatory. Delay in treatment may lead to sudden death or permanent neurologic sequelae. Under no circumstances should administration of IV glucose be delayed.
- If surgeries are contemplated, patients should be admitted the night before for administration of appropriate IV fluids to avoid complications from fasting. If the patient is older and is not admitted for IV fluids prior to the procedure, then intraoperative IV fluids containing D10 should be given.
Subspecialist Collaborations and Other Resources
Pediatric Metabolic Genetics (see Services below for relevant providers)
Metabolic geneticists will work closely with the primary care provider in terms of diet management and management for ill children with MCAD deficiency.
Nutrition, Metabolic (see Services below for relevant providers)
Metabolic nutritionists are registered dieticians who have expertise in dealing with dietary management of inborn errors of metabolism. They play a critical role in assisting the metabolic specialist in formulating a specific low-fat diet that is appropriate to treat the condition, as well as providing counseling regarding intake of necessary fats, carbohydrates, proteins, vitamins, minerals, and cofactors to allow for appropriate growth and development.
Resources
Information & Support
For Professionals
MCAD Deficiency (Gene Reviews)
Detailed genetic information about MCADD sponsored by the NIH.
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.
MCADD (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.
For Parents and Patients
Fatty Oxidation Disorders Famiy Support Group
Information for families about fatty acid oxidation disorders, including an online support group, insurance information,
conferences, etc. There are links to other sites as well.
MCADD information for parents
From the Screening, Technology and Research in Genetics site, providing information regarding MCADD and links to other sites
(parent support groups, etc).
MCADD (Genetics Home Reference)
Excellent, detailed review aimed at patients and families from the National Library of Medicine's Genetics Home Reference
site.
Services
Pediatric Metabolic Genetics
See all Pediatric Metabolic Genetics services providers (2) 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 MCADD in the last 4 years.
Matern D, Rinaldo P .
Medium-chain acyl-coenzyme A dehydrogenase deficiency.
NCBI/NIH; (2005)
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mcad.
Kaye, CI and the Committee on Genetics .
Newborn Screening Fact Sheets .
Pediatrics.
2006; 118(3):e953-e955.
Roth KS .
Medium-Chain Acyl-CoA Dehydrogenase Deficiency.
(2007)
http://www.emedicine.com/ped/topic1392.htm.
Funding/Support
This module was developed in partnership with the Heartland Regional Genetics and Newborn Screening Collaborative and was funded in part by a Health Resources Services Administration (HRSA) cooperative agreement (U22MC03962).Page Bibliography
Derks TG, van Spronsen FJ, Rake JP, van der Hilst CS, Span MM, Smit GP.
Safe and unsafe duration of fasting for children with MCAD deficiency.
Eur J Pediatr.
2007;166(1):5-11.
PubMed abstract