Multiple acyl-CoA dehydrogenase deficiency, mild type

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ORPHA:394532OMIM:231680E71.3
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Overview

Multiple acyl-CoA dehydrogenase deficiency (MADD), mild type, is a rare inherited metabolic disorder that affects the body's ability to break down fats and certain amino acids (protein building blocks) for energy. It is also commonly known as late-onset or mild glutaric aciduria type II (GA-II). Unlike the severe forms of MADD that appear in newborns, the mild type usually shows up later in childhood or adulthood and tends to have a more manageable course. In this condition, enzymes that help convert fats into energy do not work properly. When the body needs extra energy — such as during illness, fasting, or intense exercise — it cannot efficiently use its fat stores. This leads to a buildup of certain fatty acids and organic acids in the blood and tissues. Common symptoms include muscle weakness, exercise intolerance, and episodes of fatigue. Some people experience muscle pain, nausea, or vomiting during metabolic crises. In some cases, the liver can be affected, and blood sugar may drop dangerously low during periods of stress or fasting. The good news is that many patients with the mild type of MADD respond very well to treatment with riboflavin (vitamin B2), which is why this form is sometimes called 'riboflavin-responsive MADD.' A low-fat diet, avoidance of prolonged fasting, and supplementation with L-carnitine are also important parts of management. With proper treatment and monitoring, many individuals with mild MADD can lead relatively normal lives.

Also known as:

Key symptoms:

Muscle weakness, especially in the arms and legsExercise intolerance or getting tired very easily during physical activityMuscle pain or sorenessEpisodes of extreme fatigueNausea and vomiting during illness or fastingLow blood sugar (hypoglycemia) during metabolic crisesDifficulty breathing during severe episodesEnlarged liver in some casesA distinctive sweaty feet-like body odorWeight loss or difficulty gaining weightDifficulty climbing stairs or getting up from a seated positionDark-colored urine during metabolic crises

Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Multiple acyl-CoA dehydrogenase deficiency, mild type.

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No specialists are currently listed for Multiple acyl-CoA dehydrogenase deficiency, mild type.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

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Community

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Questions for your doctor

Bring these to your next appointment

  • Q1.What dose of riboflavin is right for me or my child, and how will we know if it's working?,What specific dietary changes should I make, and should I see a metabolic dietitian?,What should I do if I get sick or cannot eat — do I need an emergency protocol letter?,How often do I need blood and urine tests to monitor the condition?,Are there any activities or exercises I should avoid?,Should my family members be tested for this condition?,What are the warning signs that I need to go to the emergency room?

Common questions about Multiple acyl-CoA dehydrogenase deficiency, mild type

What is Multiple acyl-CoA dehydrogenase deficiency, mild type?

Multiple acyl-CoA dehydrogenase deficiency (MADD), mild type, is a rare inherited metabolic disorder that affects the body's ability to break down fats and certain amino acids (protein building blocks) for energy. It is also commonly known as late-onset or mild glutaric aciduria type II (GA-II). Unlike the severe forms of MADD that appear in newborns, the mild type usually shows up later in childhood or adulthood and tends to have a more manageable course. In this condition, enzymes that help convert fats into energy do not work properly. When the body needs extra energy — such as during illn

How is Multiple acyl-CoA dehydrogenase deficiency, mild type inherited?

Multiple acyl-CoA dehydrogenase deficiency, mild type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.