Transient hyperammonemia of the newborn

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Overview

Transient hyperammonemia of the newborn (THAN) is a condition that occurs in some newborns, most often premature infants, where ammonia levels in the blood become dangerously high shortly after birth. Ammonia is a waste product that the body normally processes through the liver. In THAN, this process temporarily fails, leading to a buildup of ammonia that can be toxic to the brain and other organs. Unlike inherited urea cycle disorders, THAN is not caused by a permanent genetic defect — it is a temporary condition, though it can be life-threatening if not treated quickly. Symptoms usually appear within the first 24 to 72 hours of life and can include poor feeding, vomiting, rapid breathing, lethargy, seizures, and in severe cases, coma. The exact cause of THAN is not fully understood, but it is thought to be related to the immaturity of the liver's ability to handle ammonia, possibly combined with other stresses of early life such as low oxygen levels or infection. Treatment focuses on rapidly lowering ammonia levels through medications, dialysis, and supportive care in a neonatal intensive care unit (NICU). With prompt and aggressive treatment, many babies recover fully, and the condition does not recur. However, if ammonia levels remain very high for too long, there can be lasting effects on brain development. Early recognition and treatment are critical to achieving the best possible outcome.

Key symptoms:

Extreme sleepiness or difficulty waking the babyPoor feeding or refusal to eatVomitingRapid or abnormal breathingSeizuresLow body temperatureMuscle floppiness or low muscle toneComa or unresponsivenessIrritabilitySwelling of the brainLow blood pressure

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

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 hyperammonemia of the newborn.

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No actively recruiting trials found for Transient hyperammonemia of the newborn at this time.

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No specialists are currently listed for Transient hyperammonemia of the newborn.

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 hyperammonemia of the newborn.

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Questions for your doctor

Bring these to your next appointment

  • Q1.How high were my baby's ammonia levels, and how quickly were they brought down?,Has genetic testing been done to rule out an inherited urea cycle disorder?,Is there any risk that this condition could come back?,What follow-up testing or monitoring does my baby need?,Should my baby see a developmental specialist for ongoing assessments?,Are there any signs I should watch for at home that would require emergency care?,Could this condition affect future pregnancies?

Common questions about Transient hyperammonemia of the newborn

What is Transient hyperammonemia of the newborn?

Transient hyperammonemia of the newborn (THAN) is a condition that occurs in some newborns, most often premature infants, where ammonia levels in the blood become dangerously high shortly after birth. Ammonia is a waste product that the body normally processes through the liver. In THAN, this process temporarily fails, leading to a buildup of ammonia that can be toxic to the brain and other organs. Unlike inherited urea cycle disorders, THAN is not caused by a permanent genetic defect — it is a temporary condition, though it can be life-threatening if not treated quickly. Symptoms usually app

How is Transient hyperammonemia of the newborn inherited?

Transient hyperammonemia of the newborn follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Transient hyperammonemia of the newborn typically begin?

Typical onset of Transient hyperammonemia of the newborn is neonatal. Age of onset can vary across affected individuals.