An indigenous plant food used by lactating mothers in west Africa: the nutrient composition of the leaves of Kigelia africana in Ghana.

Although the leaves of Kigelia africana are used to make a palm-nut soup which is consumed mainly by lactating women in many parts of sub-Saharan Africa, little is known about the nutrient qualities of this underutilized and underappreciated plant food. Leaves of Kigelia africana, called "sausage tree" in English and "nufuten" in the Twi language of Ghana, were collected in Kumasi and analyzed for their content of nutritionally important fatty acids, amino acids, minerals, and trace elements. The dried leaves contained 1.62% fatty acids, of which α-linolenic acid and linolenic acid accounted for 44% and 20%, respectively, of the total. Protein accounted for 12.6% of the dry weight and, except for lysine, its overall essential amino acid profile compared favorably to a World Health Organization protein standard for school children. Kigelia leaf contained considerable amounts of many essential elements, including calcium (7,620 µg/g), iron (161 µg/g), magnesium (2,310 µg/g), manganese (14.6 µg/g), zinc (39.9 µg/g), and chromium (0.83 µg/g); selenium, however, was not detected. These data indicate that Kigelia africana leaf compares favorably with many other commonly-consumed green leafy vegetables such as spinach and provides a rational basis for promoting the conservation and propagation of the plant and encouraging its wider use in the diets of populations in sub-Saharan Africa.

A cross-sectional study of the growth characteristics of Nigerian infants from birth to 2 years of age.

Malnutrition compromises the growth of children in sub-Saharan Africa. In Nigeria, the prevalence of childhood malnutrition approaches 40%. There are few reports relating the growth characteristics of breast-fed Nigerian infants to the anthropometric properties of their mothers. A total of 100 urban and rural mother/baby pairs were recruited. The mean BMI values of the urban and rural mothers were 24.2 and 21.3 kg m(-2), respectively. The mean length, weight and head circumference of the rural infants were significantly lower than those of the urban infants. Z-scores based on World Health Organization standards showed: (i) length-for-age z-score <-2 in urban (27%) and rural (33%) children; (ii) a higher incidence of underweight and small HC in rural (33%; and 13%) versus urban children (12% and 0%); and (iii) positive correlations between all three z-scores and maternal BMI. Negative correlations were observed between infant age and z-scores for length-for-age, weight-for-age and HC-for-age.

Subclinical vitamin B12 deficiency in pregnant women attending an antenatal clinic in Nigeria.

SUMMARY: Inadequate vitamin B12 status in a pregnant woman increases the risk for adverse maternal and fetal outcomes. The use of serum vitamin B12 concentration alone to assess vitamin B12 status in pregnant women is unreliable because of the decrease in serum vitamin B12 levels in normal pregnancy. The combination of serum vitamin B12 and methylmalonic acid (MMA) concentrations may provide a better estimate of vitamin B12 status. We obtained blood samples from 98 pregnant women in the third trimester at an antenatal clinic in Jos, Nigeria. All subjects were taking iron and folate supplements. Twelve of the subjects had a serum vitamin B12 concentration <148 pmol/l and 18 subjects had a serum MMA level >271 nmol/l. Using a combination of low serum vitamin B12 and elevated MMA concentrations, eight subjects were classified as having subclinical vitamin B12 deficiency. Because of the potential harmful consequences of vitamin B12 deficiency in pregnant women, it would be advisable to add vitamin B12 supplements to the existing regimen of folate and iron supplements currently provided to pregnant women in Nigeria.

Assessment of the bone quality of black female athletes using quantitative ultrasound.

AIM: The mean daily calcium intake of adult Nigerians is reportedly low, and animal studies have shown that exercise-induced changes in the bones of growing mice are gender specific. We therefore sought to describe calcaneal broadband ultrasound attenuation (BUA), speed of sound (SOS), stiffness index (SI) and SI-based T-scores in a cohort of Nigerian female athletes; to assess the correlation of SI with energy expenditure; and to compare mean SI values between sports. METHODS: We recruited 52 female athletes in 10 sporting categories, and recorded their anthropometric data. Activity levels were estimated using a questionnaire. Bone density was assessed using calcaneal ultrasound. RESULTS: The mean age of athletes was 21+/-4 years (range 15-39 years). The mean body mass index (BMI) was 22.0+/-3.5 kg/m2, and was not different between the sub-group of footballers/runners (21.3+/-1.7 kg/m2) and other athletes (23.1+/-4.8 kg/m2, P=0.06). The mean energy expenditure was 32.2+/-9.5 kcal/kg/ day, and was not different between the sub-group of footballers/runners (30.8+/-9.2 kcal/kg/day) and other athletes (34.3+/-9.7 kcal/kg/day, P=0.19). The mean BUA of the athletes was 135+/-14 dB/MHz, the mean SOS was 1597+/-13 m/s, the mean SI was 118+/-15, and the median SI-based T-score was +1.1 (-1.6 to +3.53). The means of all ultrasound parameters were not significantly different between footballers/runners and other sportswomen. CONCLUSION: Consistent physical training may improve calcaneal SI of black females by one, and potentially by as much as three T-score units. Training intensity, rather than the qualitative aspects of a sport, appears to be a major determinant of SI in female Nigerian athletes.

Enzymatic degradation of uric acid by uricase-loaded human erythrocytes.

Erythrocytes containing pig liver uricase have been prepared by hypotonic hemolysis in the presence of the enzyme. Uricase is shown to be active within the erythrocytes and to degrade uric acid as rapidly as it enters the cells when high intracellular enzyme concentrations are employed. The kinetics and characteristics of uric acid entry are shown to be the same for hemolysed and normal erythrocytes. At physiological concentrations of uric acid, loaded erythrocytes can degrade a maximum of about 21 mumol uric acid/liter erythrocytes per min. The possible application of enzyme-loaded erythrocytes to medicine is discussed.

Relationship of serum complement levels to events of the malarial paroxysm.

Malarial paroxysms due to Plasmodium vivax were studied for alterations in whole serum complement (C') and certain C' components. The objective was to relate C' values with events of the parasite cycle during schizogony and with the febrile pattern. Substantial decreases in C' were found in 9 of 18 paroxysms studied during relapse. In contrast, only one of 22 paroxysms occuring during the primary attack was associated with a striking depression in C', and this case exhibited certain characteristics of a relapse paroxysm. The mean change in C' levels during paroxysms in relapse (-23%) was significantly different from paroxysms of the primary attack (-2%). Depletion of C' was associated directly with degree of parasitemia and presence of complement-fixing (CF) antibody. Lowest levels of C' were found within a few hours after completion of schizont repture and peak fever. C4 levels reflected changes in whole serum C' and appeared to be a more sensitive indicator of C' alterations during malaria. While the alterations in C4 as well as C1 and C2 indicated that the classical C' pathway was involved, some preliminary results showed little or no depletion of late components, C3 and C6. Overall results are compatible with C' activation and depletion during or soon after schizont repture if parasite density is sufficiently high and if CF antibody is present.

Intestinal parasitism in Magama Gumau rural village and Jos township in north central Nigeria.

OBJECTIVE: To determine the prevalence of intestinal parasitosis in one rural village and one urban centre in North Central Nigeria. METHODS: A total of 111 single stool specimens from all the volunteered rural dwellers and 93 specimens from randomly selected urban dwellers were examined using Formol-ether and modified Ziehl-Neelsen techniques; during the months of June and July 2005. A questionnaire was completed for each subject and the nutritional status of the adults was assessed using the anthropometric measurements (weight and height for age and Biomass index). RESULTS: The results suggest very high prevalence rates of intestinal parasitosis of 72.1% and 69.9% for the rural and urban populations respectively. All the age groups were infected. The males in the rural area had a prevalence of 69.2% as against 74.6% in females (P>0.05); while in the urban area, the males were more significantly infected (77.4%) compared with the females with 66.1% (P< 0.05). Those with normal BMI (18.5-24.9 kg/m2) had the highest prevalence of 79.3% and 72.4% for the rural and urban populations respectively. The prevalence of the parasites in the rural and urban populations respectively were: Entamoeba coli (16.2% and 9.7%); E. histolytica (18.9% and 18.3%); E. hartmani (1.8% ad 0.0%); Endolimax nana (16.2% and 18.3%); Iodamoeba butschlii (0.0% and 1.1%); Giardia lamblia (7.2% and 4.3%); Schistosoma mansoni (9.9% and 0.0%); Strongyloides stercoralis (0.9% and 0.0%); Hookworm (4.5% and 5.4%); Ascaris lumbricoides (1.8% and 0.0%); Enterobius vermicularis (0.0% and 1.1%); Cryptosporidium parvum (29.7% and 19.4%); and Enterocytozoon bieneusi/Encephalitozoon intestinalis (39.6% and 47.3%). Polyparasitism was recorded in 48.6% of the rural subjects and 36.6% of the urban subjects. CONCLUSION: The study has shown a very high prevalence of intestinal parasitosis in both the rural and urban populations and that C. parvum and E. bieneusi/E. intestinalis are harboured by apparently healthy individuals.

Comparison of the clock test and a questionnaire-based test for screening for cognitive impairment in Nigerians.

BACKGROUND: Since it is projected that by 2020 seventy percent of the elderly will reside in developing countries, a reliable screening method for dementia and cognitive impairment in general in populations with diverse languages, culture, education and literacy will be needed. We sought to determine if the Clock Test, a screening test for dementia, was suitable for use in a Nigerian population. STUDY DESIGN: Cross-sectional survey of 54 men and 12 women from Northern Nigeria. Researchers administered two dementia screening tools: a questionnaire-based test adapted for use in a Nigerian population and the Clock Test. RESULTS: Overall, 53.0% of the subjects had an abnormal Clock Test whereas 10.6% of the subjects had an abnormal questionnaire score. Only 9.1% of the subjects had abnormal scores on both tests. Subjects with more schooling had a greater probability of having a positive clock concept (understanding that a circle represented a clock). Of those with more than 6 years of schooling, 91.0% had a positive clock concept. Subjects with a negative clock concept were more likely to have an abnormal Clock Test (93.3%) than a questionnaire (26.6%). CONCLUSIONS: The main finding of our study was the discrepancy between the results of the Clock Test and the questionnaire. Performance on the Clock Test appeared to have been heavily influenced by education level, indicating the test is not universally applicable across cultures. The questionnaire-based test appears to reduce the effects of illiteracy on assessing dementia in a Nigerian population. Larger studies should be done to control for how education affects the assessment of dementia.

Isolation and characterization of beta-glucosidase from the cytosol of rat kidney cortex.

A procedure is described for the preparation of extensively purified beta-D-glucosidase (EC 3.2.1.21) from the cytosol fraction of rat kidney. The specific activity of the beta-glucosidase in the high speed supernatant (100 000 X g, 90 min) fraction of rat kidney homogenate is 700-fold greater than that in the same fraction from heart, skeletal muscle, lung, spleen, brain or liver. beta-Glucosidase activity co-chromatographs with beta-D-galactosidase, beta-D-fucosidase, alpha-L-arabinosidase and beta-D-xylosidase activities through the last four column steps of the purification and their specific activities are 0.26, 0.39, 0.028 and 0.017 relative to that of beta-glucosidase, respectively. The specific activity of the apparently homogeneous beta-glucosidase is 115 000 nmol of glucose released from 4-methylumbelliferyl-beta-D-glucopyranoside per mg protein per h. All five glycosidase activities possess similar pH dependency (pH optimum, 6--7) and heat lability, and co-migrate on polyacrylamide disc gels at pH 8.9 (RF, 0.67). beta-Glucosidase acitivity is inhibited competitively by glucono-(1 leads to 5)-lactone (KI, 0.61 mM) and non-competitively by a variety of sulfhydryl reagents including N-ethylmaleimide, p-chloromercuribenzoate, 5,5'-dithio-bis(2-nitrobenzoic acid), and iodoacetic acid. Although the enzyme will release glucose from p-nitrophenyl and 4-methylumbelliferyl derivatives of beta-D-glucose, it will not hydrolyze xylosyl-O-serine, beta-D-glucocerebroside, lactose, galactosylovalbumin or trehalose. The enzyme consists of a single polypeptide chain with a molecular weight of 50 000--58 000, has a sedimentation coefficient of 4.41 S and contains a relatively large number of acidic amino acids. A study of the distribution of beta-glucosidase activity in various regions of the dissected rat kidney indicates that the enzyme is probably contained in cells of the proximal convoluted tubule. The enzyme is also present in relatively large amounts in the villus cells, but not crypt cells, of the intestine. The physiological substrate and function of the enzyme are unknown.

Isolation, characterization and localization of a 45 000 molecular weight, soluble glycoprotein from the lung in pulmonary alveolar proteinosis.

A carbohydrate-rich, water-soluble glycoprotein has been isolated in pure form from delipidated lung lavage fluid from a patient with pulmonary alveolar proteinosis, in a three-step procedure involving ion-exchange and gel filtration chromatography. The molecular weight of the glycoprotein was determined to be 45 900 by sedimentation equilibrium analysis in the analytical ultracentrifuge and 45 000 by polyacrylamide gel electrophoresis in the presence of sodium dodecyl sulfate, indicating a single polypeptide chain. Nearly half of the mass of the glycoprotein is comprised of carbohydrate that is contributed by 24 residues sialic acid, 23 residues N-acetylglucosamine, 6 residues N-acetylgalactosamine, 19 residues galactose, 4 residues mannose, 1 residue fucose and 1 residue glucose per mol. Unlike a number of collagen-related glycoproteins that have been isolated by others from insoluble lung contents in pulmonary proteinosis, the water-soluble glycoprotein described in the present report does not contain hydroxyproline or hydroxylysine and contains less than 10% of its amino acid residues as glycine. Using rabbit antibodies directed against our purest preparation of material and an immunoperoxidase staining procedure, the 45 000 molecular weight glycoprotein was localized to the thin film of fluid lining the surfaces of alveoli in normal human lungs.

Comparison of rates of hydrolysis of N-oleoyl and N-stearoyl glucocerebroside in patients with Gaucher's disease.

The deficiency of oleic acid as one of the fatty acids in glucocerebrosides that accumulate (31--77 mg/g dry weight) in the spleen in patients with Gaucher's disease was confirmed in 9 cases. In an effort to account for the 10-fold difference between the oleoyl glycocerebroside content of glucocerebrosides in spleen from controls and patients with Gaucher's disease, we compared the ability of extracts of spleen and fibroblasts from individuals with various forms of Gaucher's disease and controls to hydrolyze [14C]stearoyl and [3H]oleoyl glucocerebroside. The residual glucosylceramidase activity in patients with Gaucher's disease hydrolyzes the glucose moiety of oleoyl glucocerebroside at approximately the same rate as that of stearoyl glucocerebroside. Similarly, the more active glucosylceramidase of control tissue acts upon both oleoyl and stearoyl glucocerebrosides with equal efficiency. These observations indicate that a mutation affecting the substrate specificity of glucosylceramidase cannot account for the lack of oleic acid-containing glucocerebrosides in patients with Gaucher's disease. Thus, the hypothesis that the difference in fatty acid composition found in glucocerebroside is obtained as a result of a mutation affecting the specificity of the residual glucosylceramidase must be rejected.

Cytidine-5'-monophosphate-N-acetylneuraminic acid. Asialoglycoprotein sialic acid transferase activity in liver and serum of patients with juvenile hepatic cirrhosis and alpha-1-antitrypsin deficiency.

The molecular basis for the accumulation of a substance which displays the immunological reactivity of alpha-1-antitrypsin within vesicles of liver parenchymal cells of individuals with hepatic cirrhosis and serum alpha-1-antitrypsin deficiency remains unclear. We recently reported that serum from a patient with alpha-1-antitrypsin deficiency and hepatic cirrhosis was substantially deficient in sialyltransferease (EC 2.4.99.1) an enzyme which transfers sialic acid from cytidine 5'-monophosphate-N-acetylneuraminic acid to a variety of asialoglycoprotein acceptors. In the present report we have extended these studies to include serum from five additional patients with alpha-1-antitrypsin deficiency and juvenile hepatic cirrhosis as well as a liver specimen obtained at autopsy of one of these patients. We find the sialytransferase activity in serum from six patients with alpha-1-antitrypsin deficiency and hepatic cirrhosis to be 50% of healthy pediatric control values and 30% of pediatric patients with liver disease. However, serum from family members homozygous for alpha-1-antitrypsin deficiency but without hepatic cirrhosis, and serum from patients with a variety of other kinds of liver disease, failed to exhibit the marked sialytransferase deficiency. Similar assays carried out on a homogenate of a liver sample from one patient with alpha-1-antitrypsin deficiency and hepatic cirrhosis indicated that the deficiency of sialyltransferase activity was not demonstrable in liver. Furthermore, a comparative kinetic analysis of serum and liver sialytransferase in normal and afflicted individuals failed to detect differences in substrate affinities which might account for a decrease in functional sialyltransferase capacity in individuals with alpha-1-antitrypsin deficiency and hepatic cirrhosis. These observations suggest that the serum sialyltransferase deficiency in such patients probably arises after chronic and extensive liver disease involving hepatic accumulation of alpha-1-antitrypsin rather than the enzyme deficiency being the primary cause of the hepatic cirrhosis and alpha-1-antitrypsin deficiency.

Comparison of the carbohydrate and amino acid composition of normal and S-variant alpha-1-antitrypsin.

alpha-1-Antitrypsin has been isolated and purified from the serum of an individual with the Pi S phenotype whose serum contains only 50--60% as much alpha-1-antitrypsin as normal M-type serum. The preparation was homogeneous by the criteria of sodium dodecyl sulfate polyacrylamide gel electrophoresis and sedimentation equilibrium ultracentrigufation. When analyzed in the ultracentrifuge, the S-type alpha-1-antitrypsin exhibited a molecular weight of 47,500 which was essentially the same as that of the M-type (47,300) and the Z-type (47,500) alpha-1-antitrypsin. The S-type alpha-1-antitrypsin contains 15.2% carbohydrate consisting of 16.4 residues/mol of N-acetylglucosamine, 7.8 residues/mol of mannose. 6.7 residues/mol of galactose and 7.1 residues/mol of sialic acid which is essentially the same as the carbohydrate composition of the M-type alpha-1-antitrypsin. In addition, M- and S-type alpha-1-antitrypsin have very similar amino acid compositions.

Lysosomal enzymes in preeclamptic women in northern Nigeria.

BACKGROUND: The incidence of preeclampsia is high in northern Nigeria, as it is in many other developing countries, and preeclampsia is associated with significant maternal and fetal morbidity and mortality. We inquired if proteinuria or hypertension alone could account for the altered concentrations of urinary lysosomal hydrolases that have been reported in preeclamptic women and pregnant women without preeclampsia. METHODS: The activities of urinary beta-hexosaminidase and beta-galactosidase were determined fluorometrically in pregnant women assigned to one of four groups: Group I: 41 preeclamptic women; Group II: 31 hypertensive aproteinuric women; Group III: 44 normotensive proteinuric women; and Group IV: 52 healthy pregnant women (controls). RESULTS: The urinary beta-hexosaminidase concentrations were decreased in the preeclamptic women (P<0.005) and proteinuric women (P<0.001) when compared to the healthy pregnant controls. There was no significant difference in beta-hexosaminidase concentrations between the hypertensive women and the healthy pregnant controls. The urinary beta-galactosidase concentrations for preeclamptic, hypertensive, and proteinuric women did not differ significantly versus healthy pregnant controls. CONCLUSIONS: The reduced urinary excretion of beta-hexosaminidase in preeclamptic women is associated with proteinuria, but not hypertension. Measuring urinary concentrations of lysosomal hydrolases alone or in conjunction with urinary protein concentrations is not likely to be useful in predicting or monitoring the clinical course of preeclampsia; however, it might prove important in gaining a more complete understanding of the pathogenesis of renal tubular epithelial cell injury and proteinuria that occurs in preeclampsia.

Acute interstitial nephritis associated with vancomycin therapy.

Nephrotoxicity due to vancomycin is relatively uncommon and usually occurs in patients receiving concomitant therapy with an aminoglycoside or in patients with preexisting renal disease receiving prolonged courses of therapy and who exhibited excessive serum levels. We treated a healthy young woman who developed acute interstitial nephritis and moderate reversible azotemia associated with intravenous vancomycin hydrochloride therapy.

Toxic shock syndrome associated with use of latex nasal packing.

We treated a previously healthy young man who developed toxic shock syndrome 2 days after elective septoplasty with nonabsorbent latex packing. This case emphasizes that non-menstrual wound-associated toxic shock syndrome can occur after surgery that does not involve absorbent splinting or packing and should be considered in patients who present within a few days after surgery with fever, sunburnlike rash, hypotension, and multisystem complaints and laboratory abnormalities.

Factors contributing to maternal mortality in north-central Nigeria: a seventeen-year review.

Maternal mortality ratio in Nigeria is one of the highest in the world. This paper reports a facility based study in north-central Nigeria to determine the magnitude, trends, causes and characteristics of maternal deaths before and after the launch of the Safe Motherhood Initiative in Nigeria, with a view to suggesting strategic interventions to reduce these deaths. The records of all deliveries and case files of all women who died during pregnancy and childbirth between January 1, 1985 and December 31, 2001, in the maternity unit of Jos University Teaching Hospital, Jos, Nigeria, were reviewed. Data collected were analysed for socio-biological variables including age, booking status, educational level, parity, ethnic group, marital status, mode of delivery, duration of hospital stay before death occurred, cause (s) of maternal deaths. There were 38,768 deliveries and 267 maternal deaths during the period under review, giving a maternal mortality ratio (MMR) of 740/ 100,000 total deliveries. The trend fluctuated between 450 in 1990 and 1,010/100.000 deliveries in 1994. The mean age of maternal death was 26.4 (SD 8.1) years. The greatest risk of MMR was among young teenagers (> 15 years) and older women (< 40 years). Parity-specific maternal mortality ratio was highest in the grand multiparous women. Unbooked as well as illiterate women were associated with very high maternal mortality ratio. The Hausa - Fulani ethnic group contributed the largest number (44%) by tribe to maternal mortality in our study. The major direct causes of deaths were haemorrhage (34.6%), sepsis (28.3%), eclampsia (23.6%) and unsafe abortion (9.6%). The most common indirect causes of death were hepatitis (18.6%), anaesthetic death (14.6%), anaemia in pregnancy (14.6%), meningitis (12.0%), HIV/AIDS (10.6%) and acute renal failure (8.0%). Seventy-nine percent of the maternal deaths occurred within 24 hours of admission. Most of the deaths were preventable. A regional-specific programme should be planned to reduce the deplorably high maternal mortality in north-central Nigeria.

Omega-3 dietary Fatty Acid status of healthy older adults in Tasmania, Australia: an observational study.

OBJECTIVES: To determine the dietary and supplement intake of omega-3 (n-3) polyunsaturated fatty acids (PUFA) of older Tasmanian adults; their plasma n-3 PUFA status and the relationship between n-3 PUFA intake and plasma status. DESIGN: Cross-sectional study. SETTING: Launceston and surrounding regions, Tasmania, Australia. PARTICIPANTS: Seventy-three community-dwelling older adults: 23 men aged 70 ± 6.1 years and 50 women aged 70 ± 6.7 years. MEASUREMENTS: A validated, semi-quantitative food frequency questionnaire estimated dietary PUFA intake. The plasma phospholipid fraction of venous blood samples was analysed for fatty acid content. Anthropometric data was recorded. RESULTS: Thirty-five participants (48%) regularly ingested a fish oil supplement. Their plasma n-3 PUFA profile contained significantly more eicosapentaenoic acid (EPA) (odds ratio 3.14; 95% CI 1.37% to 7.30%; p<0.05) and docosahexaenoic acid (DHA) (odds ratio 2.64; 95% CI 1.16% to 6.01%; p<0.05) than non-supplement users. Fish and meat were the main dietary sources of n-3 PUFAs. Participants most commonly consumed fish 3-4 times per week. Significant associations of dietary α-linolenic acid (ALA), EPA, docosapentaenoic acid (DPA) and DHA with plasma n-3 PUFAs were noted but not always between dietary and plasma counterparts. CONCLUSION: Without the use of fish oil supplements, most study participants were unable to meet the recommended daily intake of 0.5g EPA and DHA combined; however, the plasma n-3 PUFA profile of non-supplement-users was still robust compared to other Australian and overseas studies.

Enzymic differentiation of neurologic and nonneurologic forms of Gaucher's disease.

This study explores the biochemical basis that may distinguish neurologic and nonneurologic forms of Gaucher's disease. Crude membrane preparations from spleens of controls and patients representing the three clinical categories of Gaucher's disease were delipidated by extraction with sodium cholate and n-butanol. Total beta-glucosidase activity was estimated using 4-methylumbelliferyl-beta-D-glucopyranoside (MUG) as substrate, and glucocerebrosidase activity was determined using (3H)-glucocerebroside. beta-Glucosidase and glucocerebrosidase activities were reconstituted by inclusion of sodium taurocholate or phosphatidylserine in the assay medium. When assays contained phosphatidylserine, residual beta-glucosidase activity in delipidated spleen preparations from type 1, nonneurologic cases were five times greater than cases of neurologic Gaucher's disease (82.3 vs. 11.3 units per mg protein). However, beta-glucosidase assays using sodium taurocholate did not discriminate Gaucher's disease subtypes. Similar results were obtained when spleen preparations were analyzed for glucocerebrosidase using glucocerebroside as the substrate. Brain beta-glucosidase from patients representing the three classes of Gaucher's disease showed a similar pattern of sensitivity toward phosphatidylserine. The specific activity of beta-glucosidase in an extract of brain from the one case of type 1 Gaucher's disease analyzed was five times greater than the mean residual specific activity of brain beta-glucosidase measured in five cases of type 2 and type 3 Gaucher's disease. These findings suggest that, in patients with type 1 Gaucher's disease, glucocerebrosidase may show greater activity in the presence of acidic phospholipids than glucocerebrosidase does in patients with neurologic forms of the disease. The ability of the brain enzyme from a type 1 case to be profoundly stimulated by an acidic phospholipid may explain why such individuals are spared central nervous system involvement.

A case of nonneurologic Gaucher's disease that biochemically resembles the neurologic types.

Systemic findings such as hepatosplenomegaly and typical Gaucher storage cells in a bone marrow aspirate led to the clinical diagnosis of Gaucher's disease in the seven-year old patient described in this report. On the basis of the lack of neurologic involvement the child was classified as having the Type 1, nonneurologic form of Gaucher's disease. After splenectomy glucocerebrosidase was extracted from her spleen for biochemical analysis. As expected, a marked deficiency of glucocerebrosidase activity was evident in the splenic extract, however her enzyme displayed anomalous behavior compared to other identical splenic preparations from documented Type 1 Gaucher's disease patients in that it failed to reconstitute with the acidic lipid phosphatidylserine. Using the polymerase chain reaction (PCR)-based color complementation assay and restriction endonuclease analysis, we compared the mutation genotype of this child with that of five other classical Type 1 patients. This analysis revealed that our patient alone was homoallelic for a T----C transition at position 1448 in the glucocerebrosidase cDNA that results in a 444Leu----Pro substitution in the glucocerebrosidase protein. The latter mutation genotype is normally associated with the neurologic phenotype, namely, the Types 2 and 3 forms of the disease. The relevance of the nature of polarity in clinical and biochemical analyses is discussed with regard to the phenotypic classification and the future clinical course of disease in the child.