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Altered Levels of Various Amino Acids in Blood Plasma and Cerebrospinal Fluid of Patients with Nonketotic Hyperglycinemia
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1978
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Electrolyte DisorderAmino AcidsVarious Amino AcidsFinnish ChildrenClinical InjuryCerebrospinal FluidElectrolyte DisturbanceNeurologyClinical ChemistryNeuropathologyLaboratory MedicineHealth SciencesInherited Metabolic DiseaseClinical NutritionPharmacologyNeurological AssessmentPotassium HomeostasisBlood PlasmaClinical DisordersPhysiologyDiabetesNutritional NeuroscienceHyperglycemiaCentral Nervous SystemMetabolismMedicineNonketotic Hyperglycinemia
The levels of various amino acids in the plasma and cerebrospinal fluid of five Finnish children, suffering from nonketotic hyperglycinemia (NKH) were measured, using an automatic amino acid analyzer (Jeol JLC-6AH). At the time of this investigation, these children, mean age (5.6 ± 2.4 [1 SD]) years, were the only survivors of a total of 19 cases of NKH, diagnosed in Finland from 1965 to 1977. A control group was composed of 10 children without neurological disease. In these NKH-patients the glycine concentration was found to be elevated four times the normal in plasma and 22-fold in CSF. Plasma levels of branched chain amino acids were also significantly elevated. In cerebrospinal fluid, subnormal concentrations of alanine, methionine and phenylalanine were observed. When calculating the plasma/CSF ratios for amino acids the most striking finding was a mean value of 11.1 ± 6.4 (1 SD) for glycine in NKH-patients compared with the normal value for healthy children of 54.7 ± 25.8. In this respect NKH differs clearly from other forms hyperglycinemia, in which this ratio remains almost unchanged. Also, this change in the plasma/CSF ratio supports the possibility of a defective degradation of glycine within the central nervous system in NKH, since it has been previously demonstrated that peripheral injections of glycine do not alter the glycine concentration of brain tissue.