Overview
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency is an extremely rare inherited metabolic disorder that appears in newborns shortly after birth. The NFS1 and ISD11 (also called LYRM4) genes work together to form a protein complex that is essential for building iron-sulfur clusters inside cells. Iron-sulfur clusters are tiny molecular structures needed by many enzymes in the body, especially those involved in producing energy within the mitochondria (the energy factories of cells). When this complex does not work properly, the body cannot produce energy efficiently, leading to a dangerous buildup of lactic acid in the blood — a condition called lactic acidosis. Affected newborns typically present within the first days of life with severe lactic acidosis, breathing difficulties, poor feeding, low muscle tone, and multi-organ failure. The condition can affect the brain, heart, liver, and other organs because they all depend heavily on mitochondrial energy production. Unfortunately, this disease is extremely severe, and treatment options are currently very limited. Care is mainly supportive, focusing on stabilizing the baby's condition, correcting the acid buildup in the blood, and supporting organ function. Because so few cases have been reported in the medical literature, knowledge about this condition continues to evolve as researchers learn more about iron-sulfur cluster biology.
Key symptoms:
Severe lactic acidosis (dangerous acid buildup in the blood)Breathing difficulties shortly after birthPoor feeding or inability to feedLow muscle tone (floppy baby)Multi-organ failureLiver dysfunctionHeart problemsBrain abnormalities or encephalopathySeizuresFailure to thriveLow blood sugarAbnormal blood cell countsLethargy or unresponsiveness
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 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency.
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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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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 current severity of my baby's condition, and what organs are affected?,Are there any experimental treatments or clinical trials that might help?,What is the realistic outlook for my baby's survival and quality of life?,Should we involve a palliative care team to help with comfort and family support?,What are the chances of this happening again in a future pregnancy, and what prenatal testing options exist?,Has genetic testing confirmed the exact gene mutations, and should other family members be tested?,Can you connect us with a metabolic specialist or center with experience in mitochondrial disorders?
Common questions about Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
What is Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency?
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency is an extremely rare inherited metabolic disorder that appears in newborns shortly after birth. The NFS1 and ISD11 (also called LYRM4) genes work together to form a protein complex that is essential for building iron-sulfur clusters inside cells. Iron-sulfur clusters are tiny molecular structures needed by many enzymes in the body, especially those involved in producing energy within the mitochondria (the energy factories of cells). When this complex does not work properly, the body cannot produce energy efficiently, leading
How is Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency inherited?
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency typically begin?
Typical onset of Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency is neonatal. Age of onset can vary across affected individuals.