| pubmed-article:9633984 | pubmed:abstractText | Two cases of glutaric aciduria type 1 (GA 1) are presented. GA 1 is probably underdiagnosed and misdiagnosed, and may explain a proportion of cases of extrapyramidal and 'postencephalitic' cerebral palsy. Most cases of GA 1 present with a severe dystonic-dyskinetic syndrome following an acute encephalopathy. Asymptomatic cases have also been described, complicating genetic counselling and prenatal diagnosis. We raise awareness of GA 1 and stress that if clinically suspected, immediate institution of therapy may reduce late morbidity. Moreover, if recognised in the presymptomatic stage, early institution of treatment may prevent the onset of neurological symptoms. GA 1 is an inborn error of lysine and tryptophan catabolism, caused by deficiency of the enzyme, glutaryl coenzyme-A dehydrogenase. Urine organic acid analyses may be negative. Blood acylcarnitine profile has recently been employed as a more sensitive test but was negative in both our patients. Enzyme assay remains the definitive diagnostic test. | lld:pubmed |
