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PubMed This is a summary of 22 peer-reviewed journal articles Updated
Pediatrics · Medium-Chain Acyl-CoA Dehydrogenase Deficiency

Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) Resource Guide

At a Glance

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare genetic disorder affecting how the body turns fat into energy. With early diagnosis via newborn screening and careful management of fasting and illness, children with MCADD can lead normal, healthy lives.

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare but manageable genetic condition affecting how the body breaks down fat for energy. When recognized early through newborn screening and correctly managed, children with MCADD can lead completely normal, healthy lives.

This guide is designed to empower parents and caregivers with the knowledge they need to manage this condition daily, understand the science behind it, and fiercely advocate for their child during medical emergencies.

Please explore the following pages to build your understanding and prepare your family:

01

Understanding MCADD: The Basics

Learn the basics of Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD). Understand feeding schedules, emergency protocols, and how to keep your baby healthy.

02

The Biology of MCADD and How It's Diagnosed

Understand the biology of MCADD, how the ACADM gene affects fat breakdown, and what newborn screening results like C8 and C8/C10 ratios mean for your child.

03

Daily Management and Safe Fasting Guidelines

Learn essential daily management and safe fasting guidelines for MCADD. Discover age-based feeding schedules, bedtime snacks, and handling picky eating.

04

Sick Day Rules and Emergency Hospital Protocols

Learn how to manage MCADD sick days and metabolic crises. Understand the emergency home protocol, the importance of IV D10, and how to advocate in the ER.

05

Long-Term Outlook, Surgery, and Living with MCADD

Learn about the excellent long-term outlook for children with MCADD. Understand surgery protocols, lifelong management, and transitioning care as they grow.

You can always return to this Home Page at any time.

Common questions in this guide

What is Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)?
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare genetic condition that prevents the body from properly breaking down fats into energy. It is typically identified very early through routine newborn screening.
Can a child with MCADD live a normal life?
Yes. When recognized early and carefully managed with proper feeding schedules and safe fasting practices, children with MCADD can lead completely normal, healthy lives.
Who will manage my child's MCADD care?
Your child's care should be closely coordinated between a specialized metabolic team and your local pediatrician. You will work with them to establish regular clinic visits and a clear plan for medical emergencies.
What should we do if our child with MCADD gets sick?
It is crucial to have an emergency letter and sick day protocols prepared in advance. You should know exactly who to call after-hours on your metabolic team and be ready to follow emergency hospital procedures.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.What are the first steps we need to take to establish care with a specialized metabolic team?
  2. 2.How often will we need to visit the clinic during my child's first year of life?
  3. 3.Who should we call after-hours or on weekends if we suspect a metabolic emergency?
  4. 4.Will our local pediatrician be coordinating closely with the metabolic specialist?

Questions For You

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This guide provides educational information about managing MCADD for parents and caregivers. It does not replace professional medical advice from your child's metabolic specialist or pediatrician.

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