BACKGROUND/AIMS: @entity1578 in infancy can result from several disorders of the mitochondrial respiratory chain. In some @entity1 , levels of mitochondrial DNA are markedly reduced, a phenomenon referred to as @entity17823 . To facilitate diagnosis of this condition, we have reviewed the clinical and pathological features in five @entity1 with @entity17823 . METHODS: Cases were identified by preparing Southern blots of DNA from muscle and liver, hybridising with appropriate probes and quantifying mitochondrial DNA relative to nuclear DNA. RESULTS: All our @entity1 with @entity17823 died of @entity1578 . Other problems included @entity2421 , hypoglycaemia, @entity16 (including @entity8433 ) and @entity231 . Liver histology showed geographic areas of @entity1560 , bile duct proliferation, collapse of @entity409 and @entity82 ; some cells showed decreased cytochrome oxidase activity. Muscle from three @entity1 showed mitochondrial proliferation, with loss of cytochrome oxidase activity in some fibres but not in others; in these cases, muscle mitochondrial DNA levels were less than 5% of the median control value. The remaining two @entity1 (from a single pedigree) had normal muscle histology and histochemistry associated with less severe depletion of mitochondrial DNA in muscle. CONCLUSIONS: @entity1578 is common in @entity1 with @entity17823 . Associated clinical features often include @entity4094 . Liver and muscle histology can be helpful in making the diagnosis. Mitochondrial DNA levels should be measured whenever @entity1578 is thought to have resulted from @entity2383 .

XXXX associated with @entity17823 .

@entity1 :: ('9606', 'Species') :: ['patients'] @entity4094 :: ('MESH:D009468', 'Disease') :: ['neuromuscular disease'] @entity82 :: ('MESH:D005355', 'Disease') :: ['fibrosis'] @entity1560 :: ('MESH:D005234', 'Disease') :: ['fatty change'] @entity231 :: ('MESH:D002386', 'Disease') :: ['cataracts'] @entity16 :: ('MESH:D009422', 'Disease') :: ['neurological abnormalities'] @entity409 :: ('MESH:D008107', 'Disease') :: ['liver architecture'] @entity8433 :: ('MESH:D007888', 'Disease') :: ['Leigh syndrome'] @entity1578 :: ('MESH:D017093', 'Disease') :: ['Liver failure', 'liver failure'] @entity2421 :: ('MESH:D009123', 'Disease') :: ['hypotonia'] @entity17823 :: ('MESH:C537477', 'Disease') :: ['mitochondrial DNA depletion'] @entity2383 :: ('MESH:D028361', 'Disease') :: ['respiratory chain disease']
@entity1578 :: (MESH:D017093,Disease) :: ['Liver failure']
