Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy.

摘要: Clinical course, diagnostic and therapeutic management, neurodevelopmental outcome were evaluated in 11 patients with glutaryl-coenzyme A dehydrogenase deficiency. In 9 macrocephalus was present at or shortly after birth preceded the neurological disease. 7 children an acute illness resembling encephalitis appeared a period of normal development; 2 had developmental delay progressive "dystonic cerebral palsy." Later, all displayed typical signs disorder basal ganglia. 1 patient diagnosed before onset disease; another it prenatally. Computed tomography magnetic resonance imaging scans revealed severe generalized atrophy, most striking frontal temporal lobes 10 patients. Further deterioration halted initiation treatment consisting low-protein diets, special formulas low lysine tryptophan, supplements riboflavin L-carnitine. Only showed slight clinical improvement. dietary therapy discontinued older relaxed third without observed adverse effects. Two whom could be initiated symptoms have developed normally. However, duration follow-up (6 29 months) does not yet allow classification deficiency as treatable disorder. Total body production glutaric acid, reflected daily urinary output, efficiently reduced by measures. Levels acid plasma cerebrospinal fluid remained unchanged, which may part explain overall unsatisfactory outcome. All presented secondary carnitine.(ABSTRACT TRUNCATED AT 250 WORDS)