Overview
Hypotonia with lactic acidemia and hyperammonemia is a very rare metabolic condition that typically appears in newborns or young infants. The name describes its three main features: hypotonia (low muscle tone or floppiness), lactic acidemia (a buildup of lactic acid in the blood), and hyperammonemia (too much ammonia in the blood). These chemical imbalances suggest that the body's cells are not properly converting food into energy, which is a process that takes place mainly in tiny structures inside cells called mitochondria. Babies with this condition often appear floppy and weak at birth or shortly after. They may have difficulty feeding, poor weight gain, and developmental delays. The buildup of lactic acid and ammonia can be toxic to the brain and other organs if not managed. In some cases, the condition can lead to seizures, breathing difficulties, and life-threatening metabolic crises. The exact genetic cause of this condition is not fully established in all cases, and it may represent a group of related disorders rather than a single disease. Treatment is mainly supportive and focuses on managing the metabolic abnormalities, preventing crises, and supporting development. Because this condition is so rare, there is limited research on long-term outcomes, and management often requires a team of specialists working together.
Also known as:
Key symptoms:
Low muscle tone (floppiness)Poor feeding or difficulty suckingFailure to thrive or poor weight gainDevelopmental delaysSeizuresBreathing difficultiesLethargy or excessive sleepinessVomitingHigh levels of lactic acid in the bloodHigh ammonia levels in the bloodMuscle weaknessPoor reflexesIrritability
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Hypotonia with lactic acidemia and hyperammonemia.
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Specialists
View all specialists →No specialists are currently listed for Hypotonia with lactic acidemia and hyperammonemia.
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 Hypotonia with lactic acidemia and hyperammonemia.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the specific underlying cause of my child's condition, and has genetic testing identified a mutation?,What are the warning signs of a metabolic crisis, and what should I do if one occurs?,What dietary changes or restrictions does my child need?,What therapies and support services are recommended for my child's development?,Are there any clinical trials or new treatments being studied for this condition?,How often should my child have blood tests to monitor lactic acid and ammonia levels?,What is the long-term outlook for my child, and how can we best support their quality of life?
Common questions about Hypotonia with lactic acidemia and hyperammonemia
What is Hypotonia with lactic acidemia and hyperammonemia?
Hypotonia with lactic acidemia and hyperammonemia is a very rare metabolic condition that typically appears in newborns or young infants. The name describes its three main features: hypotonia (low muscle tone or floppiness), lactic acidemia (a buildup of lactic acid in the blood), and hyperammonemia (too much ammonia in the blood). These chemical imbalances suggest that the body's cells are not properly converting food into energy, which is a process that takes place mainly in tiny structures inside cells called mitochondria. Babies with this condition often appear floppy and weak at birth or
At what age does Hypotonia with lactic acidemia and hyperammonemia typically begin?
Typical onset of Hypotonia with lactic acidemia and hyperammonemia is neonatal. Age of onset can vary across affected individuals.