Abstract
11-beta-ketothiolase deficiency is a rare metabolic disorder, which requires further investigation. We report two brothers, 6 9/12 years (pat. 1) and 4 years (pat. 2). who suffered from a 11-B-Ketothiotase deficiency (EG 2.3.1.9) which was confirmed by an elevated 2-methyl-3-hydroxybutyric acid and triglyglycine excretion in the urine. Measurements of ketolytic enzyme activities in fibroblast extracts from mother and pat. 2 showed a low activity of the short chain specific mitochondrial thiolase (C5/C4) rates = 0.54 and 0.44 rsp.). Both patients had delayed development, neurological features (appallic syndrome, pat. 1, and tetraparesis, pat. 2 respectively), seizures and amaurosis with opticus atrophy and died in a metabolic acidotic crisis after development of an obstructive cardiomyopathy. Destruction in the brain included the parietal and occipital cortex, visual cortex, putamen, caput nuclei caudati and claustrum.It is assumed that in this family there is a severe specific form of 11-beta-Kelothiolase deficiency which affected also the heart metabolism of the children.
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