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What is LBSL? Leukoencephalopathy with Brainstem and Spinal cord involvement and Lactate elevation (LBSL) is a rare type of leukodystrophy,...

LCAD Long Name: Long-Chain Acyl-CoA Dehydrongenase Deficiency Symptoms: Usually causes a fatal syndrome, in infants, typified by failure to...

What is Leigh syndrome? Leigh syndrome (or Leigh’s disease) is a mitochondrial disorder, sometimes called subacute necrotizing...

LCHAD Symptoms: Encephalopathy, liver dysfunction, cardiomyopathy, and myopathy. Also pigmentary retinopathy and peripheral neuropathy. Cause:...

UMDF, LHON Collective Issue Statement on theFDA’s Decision Not to Approve Idebenone >> LHON Live Monthly Online Meetings Each month,...

Luft Disease Symptoms: Hypermetabolism, with fever, heat intolerance, profuse perspiration, polyphagia, polydipsia, ragged-red fibers, and...

MAD / Glutaric Aciduria Type II Long Name: Multiple Acyl-CoA Dehydrogenase Deficiency Cause: Defects of the flavoproteins responsible for...

MCAD Long Name: Medium-Chain Acyl-CoA Dehydrongenase Deficiency Symptoms: Afflicts infants or young children with episodes of encephalopathy,...

Our MELAS Story “Our MELAS Story” is a video series designed to showcase the burden of living with MELAS, with hopes of helping the...

What is MEPAN? Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration (MEPAN) is a rare mitochondrial disease that affects the...