The search for genetic predisposing factors in developing fetal toxicity of ethanol is continued. We admitted two patients at the Clinical Center with the diagnosis of fetal alcohol syndrome under the clinical protocol 83-CH-228. One additional patient with FAS was also seen at an outpatient clinic of Howard University Hospital. Skin biopsies from two of these patients were obtained and fibroblast cultures were established. These cells were used for transketolase enzyme kinetics. Preliminary results indicate an abnormal Km for TPP (2.5 uM) for one of these patients while the second patient's Km was within normal limits. Three age and sex matched control patients' fibroblasts were also studied and all had normal Km for TPP (0.5-1.2 uM). A three year review has been completed on this protocol and the ICRS has approved this protocol for three more years because of the difficulty in recruiting patients with FAS.
