Abstract：
:3-Ketothiolase deficiency (3KTD) manifests with intermittent acidosis and is due to deficiency of mitochondrial 2-methylacetoacetate thiolase. Only 22 patients have been previously reported. Although its variable clinical presentation is recognized, the associated neurological findings have not been detailed. We report four new patients all with significant neurological symptoms. Three patients were examined with MRI of the brain which showed increased T2 intensity within the posterior lateral part of the putamen bilaterally. In two the MRI was otherwise normal; in one delayed myelination was also seen. These MRI putaminal findings may be typical enough to suggest the diagnosis of 3KTD. Two of the three had abnormal EEGs; one had an abnormal VEP. 3KTD can thus occur as an organic acidemia associated with encephalopathy.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Ozand PT,Rashed M,Gascon GG,al Odaib A,Shums A,Nester M,Brismar Jdoi
10.1016/0387-7604(94)90095-7subject
Has Abstractpub_date
1994-11-01 00:00:00pages
38-45eissn
0387-7604issn
1872-7131pii
0387-7604(94)90095-7journal_volume
16 Supplpub_type
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