Value of lumbar puncture in the diagnosis of genetic metabolic encephalopathies.

摘要: Diagnostic testing for genetically determined metabolic disease has many years relied heavily on the use of generalized screening tests that analyze groups related compounds in easily accessible peripheral fluids such as plasma and urine. Organic acid profiles urine amino analysis are two most commonly requested tests; these, together with other protocols examine fluids, have been continue to be invaluable tools. There is, however, an emerging realization encephalopathies do not arise secondary changes but rather their origins within central nervous system. In these cases, might uninformative. This review is designed role cerebrospinal fluid analyses investigation infants children undefined encephalopathies. The aims conditions which measurement metabolites critical if a diagnosis ...