About LBSL
ICD code: E88.43 (Disorders of Mitochondrial tRNA Synthetases)
LBSL is a complex and ultra-rare genetic disorder, with wide-ranging symptoms. Read more and find our full resource packet below!
LBSL Considerations
Note: This overview is intended to be informative for clinicians, not medical advice for patients.
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Patient vitals (especially body temperature), lab results, etc. may be out of reference range. Inquire about baseline, and trust patients/parents as experts on their own “normal” values.
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Prevent whenever feasible, otherwise treat quickly and aggressively:
Fever/Infection
Dehydration
Fasting
Overheating
Hypothermia
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Many patients with LBSL are particularly vulnerable to severe consequences from head injury. Recommend thorough neurological assessment, extended observation, and low threshold for imaging.
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Diligently look for source of fever or symptoms suggestive of infection; treat aggressively. Recovery may be slow.
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Anaesthesia may cause motor crises/delayed recovery. Patients may be taking custom prescription “mito cocktails” (high potency antioxidants and amino acids) to support metabolic needs. Consult with pharmacist and/or clinicians familiar with mitochondrial disorders and treatment. Additional labwork may be indicated.
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Patient recovery may be longer than expected. Plan for extended impact from surgery, anesthesia, illness, injury, aggravating conditions (see above), and/or change in medication.
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Patients should be counseled to follow up with their primary care provider, neurologist, and/or metabolic specialist soon after discharge. Follow-up lab work may be indicated. Consult OT/PT as needed. Refer patient to new specialists as needed to complete care team.
Treating LBSL
Note: This is intended to be informative for clinicians, not medical advice for patients.
Because there are no approved treatments for LBSL, care focuses on supportive measures, including:
Rehabilitative Medicine and Therapies, including physical, occupational, speech and/or feeding therapies as needed.
Laxatives (as indicated for constipation).
Antiepileptics (as indicated for seizures).
Mitochondrial cocktails. Learn more from the following professional presentation at our 2022 LBSL Conference.
Feeding tube
Medications to address spasticity
Collaboration Opportunities
Cure LBSL supports and collaborates with clinicians, researchers and patient advocacy groups from all over the globe. We partner with:
Kennedy Krieger Institute
Children’s Hospital of Philadelphia
Rady Children’s Health/Children’s Hospital of Orange County
Broad Institute of Harvard and MIT
Amsterdam University Medical Center
University of Helsinki
Global Leukodystrophy Initiative
The Global Leukodystrophy Initiative Clinical Trials Network is a consortium of scientists, industry stakeholders and patient advocacy leaders working together to promote advances in the diagnosis and treatment of leukodystrophies.