Overview
Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric aciduria type II or glutaric acidemia type II (GA2), is a rare inherited metabolic disorder. It affects the body's ability to break down fats, proteins, and some sugars to produce energy. This happens because certain enzymes in the mitochondria — the energy-producing parts of cells — do not work properly. As a result, harmful substances build up in the blood and urine, and the body struggles to make enough energy, especially during times of stress like illness or fasting. MADD can affect many parts of the body, including the heart, liver, muscles, and kidneys. Symptoms can range from very severe in newborns — including low blood sugar, weak muscle tone, and life-threatening metabolic crises — to milder forms that appear in childhood or even adulthood, often with muscle weakness and fatigue. Some people with the milder form respond remarkably well to riboflavin (vitamin B2) supplements. Treatment focuses on managing symptoms, preventing metabolic crises, and supporting the body's energy needs through a special low-fat, low-protein diet, carnitine supplements, and in some cases riboflavin. There is no cure, but with proper management many patients — especially those with the riboflavin-responsive form — can live relatively normal lives.
Key symptoms:
Muscle weakness, especially in the shoulders, hips, and thighsExtreme tiredness and low energyLow blood sugar (hypoglycemia), especially when fasting or sickNausea and vomitingEnlarged liver (hepatomegaly)Weak muscle tone (hypotonia) in newbornsHeart muscle problems (cardiomyopathy)Unusual sweaty or 'sweaty feet' body odorDifficulty breathing in severe newborn casesKidney problems (cystic kidneys in severe forms)Facial differences in some newborns with the severe formExercise intolerance — muscles tire very quicklyMetabolic crisis — sudden severe illness triggered by fasting or infection
Clinical phenotype terms (50)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Multiple acyl-CoA dehydrogenase deficiency.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Multiple acyl-CoA dehydrogenase deficiency.
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Caregiver Resources
NORD Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.Which type of MADD does my child or I have, and which gene is affected?,Is my form likely to respond to riboflavin, and how will we know if it is working?,What exactly should I eat and avoid, and can I speak with a metabolic dietitian?,What is my emergency plan if I get sick and cannot eat — do I need to go straight to the hospital?,Should other family members be tested to see if they are carriers or affected?,What symptoms should prompt me to call you or go to the emergency room right away?,Are there any clinical trials or new treatments I should know about?
Common questions about Multiple acyl-CoA dehydrogenase deficiency
What is Multiple acyl-CoA dehydrogenase deficiency?
Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric aciduria type II or glutaric acidemia type II (GA2), is a rare inherited metabolic disorder. It affects the body's ability to break down fats, proteins, and some sugars to produce energy. This happens because certain enzymes in the mitochondria — the energy-producing parts of cells — do not work properly. As a result, harmful substances build up in the blood and urine, and the body struggles to make enough energy, especially during times of stress like illness or fasting. MADD can affect many parts of the body, includin
How is Multiple acyl-CoA dehydrogenase deficiency inherited?
Multiple acyl-CoA dehydrogenase deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Multiple acyl-CoA dehydrogenase deficiency?
5 specialists and care centers treating Multiple acyl-CoA dehydrogenase deficiency are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.