IDENTIFICATION OF A FAMILIAL MUTATION ASSOCIATED WITH GABA-TRANSAMINASE DEFICIENCY DISEASE

GABA-transaminase (GABA-T) deficiency disease is a rare recessive diso rder characterized by abnormal development, seizures, and high levels of GABA in serum and cerebrospinal fluid. Although some patients are t he offspring of consanguineous marriages, most are not. To identify th e molecular basis of this disease, we have determined the sequence of human GABA-T cDNA. We have compared the GABA-T cDNA sequences in cultu red cells derived from six healthy controls with those from a GABA-T-d eficient patient and both parents. Our data indicate that GABA-T defic iency disease may result from an allele that encodes an R220K substitu tion. (C) 1998 Academic Press.