Transient neonatal multiple acyl-CoA dehydrogenase deficiency

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Overview

Transient neonatal multiple acyl-CoA dehydrogenase deficiency (also called transient neonatal MADD or transient glutaric aciduria type II) is a rare metabolic condition that affects newborn babies. It belongs to a group of disorders known as fatty acid oxidation defects. In this condition, the baby's body temporarily has trouble breaking down fats and certain amino acids (building blocks of protein) for energy. This happens because enzymes that normally help with these processes do not work properly during the first days to weeks of life. Babies with this condition may show symptoms shortly after birth, including low blood sugar (hypoglycemia), low muscle tone (floppiness), poor feeding, a distinctive sweaty-feet odor, and metabolic acidosis (too much acid in the blood). In some cases, the heart or liver may also be affected. What makes this form unique compared to permanent MADD is that the enzyme problems improve over time, often within weeks to months, and the baby can recover. The exact cause of the transient form is not always fully understood. In some cases, it may be related to the mother's riboflavin (vitamin B2) status or to temporary immaturity of the baby's metabolic pathways. Treatment typically involves riboflavin supplementation, careful management of feeding and blood sugar, and sometimes carnitine supplementation. With early recognition and supportive care, the outlook for most affected babies is generally good, as the metabolic abnormalities tend to resolve. However, prompt treatment during the acute phase is critical to prevent serious complications.

Also known as:

Key symptoms:

Low blood sugar (hypoglycemia)Poor feeding or difficulty feedingLow muscle tone (floppiness)Unusual sweaty-feet body odorMetabolic acidosis (too much acid in the blood)Lethargy or excessive sleepinessVomitingEnlarged liverHeart problems (cardiomyopathy)Breathing difficultiesDehydrationFailure to gain weight

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Transient neonatal multiple acyl-CoA dehydrogenase deficiency.

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No actively recruiting trials found for Transient neonatal multiple acyl-CoA dehydrogenase deficiency at this time.

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No specialists are currently listed for Transient neonatal multiple acyl-CoA dehydrogenase deficiency.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

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

No travel grants are currently matched to Transient neonatal multiple acyl-CoA dehydrogenase deficiency.

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.How can you be sure this is the transient form and not permanent MADD?,How long will my baby need riboflavin and carnitine supplements?,What signs should I watch for that would mean I need to bring my baby to the emergency room?,How often will my baby need follow-up blood tests to check if the condition is resolving?,Are there any long-term effects I should watch for as my child grows?,Should I be tested for riboflavin deficiency or carrier status?,Will future pregnancies be at risk for this same condition?

Common questions about Transient neonatal multiple acyl-CoA dehydrogenase deficiency

What is Transient neonatal multiple acyl-CoA dehydrogenase deficiency?

Transient neonatal multiple acyl-CoA dehydrogenase deficiency (also called transient neonatal MADD or transient glutaric aciduria type II) is a rare metabolic condition that affects newborn babies. It belongs to a group of disorders known as fatty acid oxidation defects. In this condition, the baby's body temporarily has trouble breaking down fats and certain amino acids (building blocks of protein) for energy. This happens because enzymes that normally help with these processes do not work properly during the first days to weeks of life. Babies with this condition may show symptoms shortly a

At what age does Transient neonatal multiple acyl-CoA dehydrogenase deficiency typically begin?

Typical onset of Transient neonatal multiple acyl-CoA dehydrogenase deficiency is neonatal. Age of onset can vary across affected individuals.