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SUMMARY Fasting and postprandial serum bile salt concentrations and intravenous glycocholate disappearance were studied in 20 patients with anicteric liver disease who had only minor abnormalities of conventional liver function tests. Abnormalities in the fasting or two hour postprandial conjugated cholate concentrations were found in all but one of the patients who had an abnormality in bilirubin concentration. In these patients, fasting and postprandial conjugated cholate concentrations were raised on average three and two times respectively above the upper limit of the reference range, while bilirubin concentration was raised only 50 %. Postprandial conjugated cholate concentrations were also abnormal in two patients with normal bilirubin concentrations. Measurement of fasting and postprandial conjugated chenodeoxycholate concentration and intravenous glycocholate disappearance proved less informative than the fasting and postprandial conjugated cholate test. These results suggest that, where bilirubin concentrations are normal or only slightly raised, measurement of serum fasting and two hour postprandial conjugated cholate concentrations may prove helpful in the detection of minor abnormalities in hepatic anion transport.

SUMMARY A patient with Niemann-Pick disease is reported together with family studies. Her liver and bone marrow were shown to be infiltrated with sea blue histiocytes. Other organs, spleen and lung, were presumably also involved but histological proof was not obtained. Enzyme assay of leucocytes, lymphocytes, and cultured skin fibroblasts showed the patient to be deficient in sphingomyelinase activity. In fibroblasts, activity was 5 % of normal while for the parents activity was about 50 % of normal. The expected partial deficiency was not found using leucocytes or lymphocytes from the parents. Heat stability studies on fresh fibroblast extracts from the propositus indicated that residual sphingomyelinase activity was slightly more labile than that of the controls. It seems clear that chronic Niemann-Pick disease without neurological involvement is associated with sea blue histiocytosis.