Overview
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins is an extremely rare and severe mitochondrial disorder characterized by rapidly progressive liver failure presenting in the first months of life. This condition results from defects in the translation of mitochondrial DNA (mtDNA)-encoded proteins, which are essential components of the oxidative phosphorylation (OXPHOS) system. The impaired mitochondrial protein synthesis leads to combined deficiency of multiple respiratory chain complexes, predominantly affecting the liver but potentially involving other energy-demanding organs such as the brain, heart, and skeletal muscle. Clinical features typically manifest in the neonatal or early infantile period and include jaundice, hepatomegaly, coagulopathy, hypoglycemia, lactic acidosis, and elevated liver enzymes, rapidly progressing to acute liver failure. Additional findings may include failure to thrive, hypotonia, and neurological deterioration. Laboratory investigations often reveal elevated blood lactate, abnormal liver function tests, and combined respiratory chain enzyme deficiencies in liver tissue. The condition is caused by mutations in nuclear genes that encode factors involved in mitochondrial translation, including but not limited to genes such as TRMU, GFM1, TSFM, and EFG1. Inheritance is autosomal recessive. The prognosis is generally very poor, with many affected infants succumbing to liver failure in the first year of life. Treatment is largely supportive, focusing on management of liver failure, metabolic stabilization, and nutritional support. Liver transplantation has been considered in select cases, though outcomes are variable, particularly when there is multisystem involvement. No curative therapy is currently available.
Also known as:
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)
FDA & Trial Timeline
1 eventNutropin Depot: FDA approved
Long-term treatment of growth failure due to a lack of adequate endogenous growth hormone secetion for once- or twice-a-month administration.
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableNutropin Depot
Long-term treatment of growth failure due to a lack of adequate endogenous growth hormone secetion for once- or twice-a-month administration.
Clinical Trials
View all trials with filters →No actively recruiting trials found for Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins at this time.
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Specialists
View all specialists →No specialists are currently listed for Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins.
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
Financial Resources
1 resourcesTravel Grants
No travel grants are currently matched to Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins.
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Caregiver Resources
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Family & Caregiver Grants
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Social Security Disability
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Common questions about Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
What is Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins?
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins is an extremely rare and severe mitochondrial disorder characterized by rapidly progressive liver failure presenting in the first months of life. This condition results from defects in the translation of mitochondrial DNA (mtDNA)-encoded proteins, which are essential components of the oxidative phosphorylation (OXPHOS) system. The impaired mitochondrial protein synthesis leads to combined deficiency of multiple respiratory chain complexes, predominantly affecting the liver but potentially involving other energy-dem
How is Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins inherited?
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins typically begin?
Typical onset of Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins is neonatal. Age of onset can vary across affected individuals.
What treatment and support options exist for Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins?
1 patient support program are currently tracked on UniteRare for Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins. See the treatments and support programs sections for copay assistance, eligibility, and contact details.