LCA Deficiency
LCAD Long Name: Long-Chain Acyl-CoA Dehydrongenase Deficiency Symptoms: Usually causes a fatal syndrome, in infants, typified by failure to...
Read: LCA DeficiencyLCAD Long Name: Long-Chain Acyl-CoA Dehydrongenase Deficiency Symptoms: Usually causes a fatal syndrome, in infants, typified by failure to...
Read: LCA DeficiencyWhat is Leigh syndrome? Leigh syndrome (or Leigh’s disease) is a mitochondrial disorder, sometimes called subacute necrotizing...
Read: Leigh syndromeLCHAD Symptoms: Encephalopathy, liver dysfunction, cardiomyopathy, and myopathy. Also pigmentary retinopathy and peripheral neuropathy. Cause:...
Read: LCHA DeficiencyUMDF, LHON Collective Issue Statement on theFDA’s Decision Not to Approve Idebenone >> LHON Live Monthly Online Meetings Each month,...
Read: LHONLuft Disease Symptoms: Hypermetabolism, with fever, heat intolerance, profuse perspiration, polyphagia, polydipsia, ragged-red fibers, and...
Read: Luft DiseaseMAD / Glutaric Aciduria Type II Long Name: Multiple Acyl-CoA Dehydrogenase Deficiency Cause: Defects of the flavoproteins responsible for...
Read: MAD / Glutaric Aciduria Type IIMCAD Long Name: Medium-Chain Acyl-CoA Dehydrongenase Deficiency Symptoms: Afflicts infants or young children with episodes of encephalopathy,...
Read: MCADOur MELAS Story “Our MELAS Story” is a video series designed to showcase the burden of living with MELAS, with hopes of helping the...
Read: MELASWhat is MEPAN? Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration (MEPAN) is a rare mitochondrial disease that affects the...
Read: MEPANWhat is MERRF? Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF) is a rare, multisystem mitochondrial disease hallmarked commonly by...
Read: MERRF