A retrospective study is reported on the clinical outcome of six @entity1 with @entity3480 ( @entity3480 ) diagnosed during the last 20 years at the Metabolic Unit of Hacettepe University @entity1 's Hospital. @entity3480 is only one of many @entity2246 that may have an acute or a late, intermittent presentation. Generally, the diagnosis cannot be made by clinical or routine clinical chemical investigations, although the odor of "sweaty feet" is a presenting symptom. An unusual urinary odor, which was present in all of our @entity1 , should lead to a thorough screening for @entity347 at any age. Here, we have reported six @entity1 with @entity3480 . Two pairs were siblings. All, except one @entity1 , had positive family history of sibling deaths and all parents were related. In our series, only two @entity1 presented during the neonatal period and both died during the acute crisis. The other four @entity1 presented after the neonatal period and were categorized as having a chronic intermittent form of @entity3480 . Two cases showed normal development despite repeated metabolic decompensations; one @entity1 was diagnosed during the first attack, but he was mentally and @entity1957 . The other one died during the metabolic crisis. The presented cases illustrate that @entity3480 can be managed successfully once the diagnosis is made. But lack of early recognition may lead to severe @entity1155 or @entity204 .

XXXX . Clinical presentation of 6 cases.

@entity1 :: ('9606', 'Species') :: ['patients', 'Children', 'patient'] @entity3480 :: ('MESH:C538167', 'Disease') :: ['isovaleric acidemia', 'IVA'] @entity2246 :: ('MESH:D008661', 'Disease') :: ['inborn errors of metabolism'] @entity1957 :: ('MESH:D019957', 'Disease') :: ['motor retarded'] @entity1155 :: ('MESH:D011596', 'Disease') :: ['psychomotor retardation'] @entity204 :: ('MESH:D003643', 'Disease') :: ['death'] @entity347 :: ('MESH:D019965', 'Disease') :: ['organic acidemia']
@entity3480 :: (MESH:C538167,Disease) :: ['Isovaleric acidemia']
