Abstract:

Objective To analyse the clinical characteristics of nervous system of children with inherited metabolic disorders. Methods The clinical manifestations, biochemical parameters and imaging data of 81 children with inherited metabolic disorders were retrospectively reviewed, and were comprehensively analysed on the basis of findings of tandem mass spectrometry, gas chromatography mass spectrometry and enzymological examinations. Results Among the 81 children with inherited metabolic disorders, there were 14 cases of methylmalonic acidemia, 5 cases of methylmalonic acidemia with homocysteinuria, 4 cases of  propionic acidemia, 3 cases of maple syrup urine disease, 2 cases of ornithine transcarbamylase deficiency, 1 case of glutaric acidemia, 1 case of citrullinemia, 1 case of argininemia, 3 cases of phenylketonuria, 1 case of biotinidase deficiency, 17 cases of glycogenosis, 1 case of mucopolysaccharidosis, 4 cases of leukodystrophy and 24 cases of Wilson disease. The common clinical manifestations were seizure, development retardation or retrogression, disturbance of consciousness, mental retardation, feed difficulty and vomiting. Head CT or magnetic resonance imaging revealed brain dysplasia, encephalomalacia and abnormal white matter signal, and electroencephalography displayed slow wave or epileptiform activity. Conclusion Inherited metabolic disorders are characterized by seizure, disturbance of consciousness, development retardation or retrogression and mental retardation, and children with above nervous system symptoms should be timely screened for inherited metabolic disorders for the early diagnosis, proper treatment and improved prognosis.

Key words: inherited metabolic disorder, child, nervous system manifestation