Overview
Multiple acyl-CoA dehydrogenase deficiency (MADD), severe neonatal type, is also known as glutaric aciduria type II or glutaric acidemia type II. It is a serious inherited metabolic disorder that affects the body's ability to break down fats and proteins for energy. This happens because certain enzymes needed to process fatty acids and amino acids do not work properly. In the severe neonatal form, symptoms appear at birth or within the first few days of life. Affected babies often have low blood sugar (hypoglycemia), a dangerous buildup of acid in the blood (metabolic acidosis), an enlarged liver, and a distinctive sweaty feet odor. Many babies are also born with birth defects, including kidney abnormalities (such as polycystic kidneys), brain malformations, and facial differences. Severe weakness, poor muscle tone, and heart problems (cardiomyopathy) are also common. Unfortunately, the severe neonatal form of MADD carries a very poor prognosis. Treatment is largely supportive and may include riboflavin (vitamin B2) supplementation, a special low-fat and low-protein diet, and carnitine supplements. Despite these measures, many affected infants do not survive beyond the first weeks or months of life. Early diagnosis through newborn screening and metabolic testing is important to provide the best possible supportive care.
Also known as:
Key symptoms:
Severe low blood sugar (hypoglycemia)Dangerous acid buildup in the blood (metabolic acidosis)Enlarged liverSweaty feet or unusual body odorVery weak muscle tone (floppy baby)Heart muscle disease (cardiomyopathy)Kidney cysts or abnormal kidneysBrain malformationsFacial differences (wide-set eyes, high forehead)Poor feeding and failure to thriveBreathing difficultiesSeizuresVomitingLethargy or unresponsivenessBirth defects of the abdominal wall
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type.
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Specialists
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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
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Caregiver Resources
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Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific gene mutation does my baby have, and does it affect the expected outcome?,Is my baby's form of MADD likely to respond to riboflavin treatment?,What emergency signs should I watch for, and what should I do if they occur?,Are there any clinical trials or experimental treatments available?,What are the chances of having another child with this condition, and what prenatal testing is available?,Should our other family members be tested as carriers?,What palliative care and family support services are available to us?
Common questions about Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
What is Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type?
Multiple acyl-CoA dehydrogenase deficiency (MADD), severe neonatal type, is also known as glutaric aciduria type II or glutaric acidemia type II. It is a serious inherited metabolic disorder that affects the body's ability to break down fats and proteins for energy. This happens because certain enzymes needed to process fatty acids and amino acids do not work properly. In the severe neonatal form, symptoms appear at birth or within the first few days of life. Affected babies often have low blood sugar (hypoglycemia), a dangerous buildup of acid in the blood (metabolic acidosis), an enlarged l
How is Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type inherited?
Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type typically begin?
Typical onset of Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type is neonatal. Age of onset can vary across affected individuals.