For Clinicians

Managing LBSL

Cure LBSL provides clinicians with practical resources to better understand LBSL and support patients throughout the course of the disease. Explore information on diagnosis, management, care, and other tools to help guide care for individuals living with LBSL.

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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!

Clinician Resource Packet

Care Recommendations

There are no approved treatments for LBSL, so 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 presentation at our 2022 LBSL Conference

  • Feeding tube.

  • Medications to address spasticity.

  • Durable medical equipment and orthotics.

LBSL Considerations

Note: This overview is intended to be informative for clinicians, not medical advice for patients.

Assessing a Patient with LBSL

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.

Aggravating Conditions

Prevent the following whenever feasible, otherwise treat quickly and aggressively:

  • Fever/Infection

  • Dehydration

  • Fasting

  • Overheating

  • Hypothermia

Head Injury

Some patients with LBSL are particularly vulnerable to severe consequences from head injury. Recommend thorough neurological assessment, extended observation, and low threshold for imaging.

Recovery Time

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.

Infection/Illness

Diligently look for source of fever or symptoms suggestive of infection; treat aggressively. Recovery may be slow.

Medication Interactions

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.

Referrals and Follow Ups

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.

Get in Touch

Do you have questions about LBSL? Get in touch with our team to discuss more.

Contact Us

Cure LBSL collaborates with clinicians, researchers and patient advocacy groups from all over the globe.

Here are some of our partners!

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