Abstract
This paper describes a case of 4-year-old phenylketonuric girl with high CSF levels of homocarnosine. The phenylalanine concentration in CSF of this patient was markedly high and the homocarnosine levels in CSF was increased about 7-fold as compared to the normal control value. Allen et al. And Van Sande et al. Reported the cases of phenylketonuria with high concentration of homocarnosine in CSF. However, the physiological significance of high homocarnosine level in CSF of phenylketonuric patients remains obscure. GABA as a neuroinhibitory transmitter may decrease by a metabolic disorder of homocarnosine as the GABA pool is affected by a high content of phenylalanine in the brain. Intractable seizures of this case may possibly be due to the decrease of GABA in brain.
