LCA Deficiency
LCAD Long Name: Long-Chain Acyl-CoA Dehydrongenase Deficiency Symptoms: Usually causes a fatal syndrome, in infants, typified by failure to...
Read moreLCAD Long Name: Long-Chain Acyl-CoA Dehydrongenase Deficiency Symptoms: Usually causes a fatal syndrome, in infants, typified by failure to...
Read moreLCHAD Symptoms: Encephalopathy, liver dysfunction, cardiomyopathy, and myopathy. Also pigmentary retinopathy and peripheral neuropathy. Cause:...
Read moreWhat is Leigh syndrome? Leigh syndrome (or Leigh’s disease) is a mitochondrial disorder, sometimes called subacute necrotizing...
Read moreLuft Disease Symptoms: Hypermetabolism, with fever, heat intolerance, profuse perspiration, polyphagia, polydipsia, ragged-red fibers, and...
Read moreMAD / Glutaric Aciduria Type II Long Name: Multiple Acyl-CoA Dehydrogenase Deficiency Cause: Defects of the flavoproteins responsible for...
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