Orally administered gossypol has no effect on eight hamster erythrocytic enzymes.

The effectiveness of gossypol as an antifertilizing agent is due to the severe injuries or death that this drug produces on spermatozoa and spermatides. Several in vitro and in vivo studies have shown that spermatozoal lactic and malic dehydrogenases are inhibited by gossypol; and that these are more susceptible than the somatic enzymes. Notwithstanding, the in vivo effects on other somatic enzymes have been poorly analyzed. The present study shows that gossypol did not produce toxic effects on eight erythrocytic enzymes of male hamsters that were fed daily with 20 mg of gossypol/kg, for 1, 3, 5 or 10 days. The enzymatic activities analyzed were: adenylate kinase, hexokinase, glucose-6-phosphatase, glucose phosphoisomerase, phosphofructokinase, glyceraldehyde-3-phosphate dehydrogenase, phosphoglyceratokinase and pyruvate kinase.

Frequency and origin of G-6-PD deficiency among icteric newborns in the metropolitan area of Monterrey, Nuevo León, Mexico.

829 icteric newborn males were studied in order to have more information about the frequency of the G-6-PD deficiency and its origin in the population of the Monterrey Metropolitan area (MMA), in northeastern Mexico. For each subject information about the maternal grandparents' birthplace (states of Mexico) was gathered. The newborns were grouped into five geographic areas. It was found that the frequency of G-6-PD deficiency is higher in icterics than in normal newborns. The grandparents of the deficient newborns with variant B belonged to the northeastern states of Mexico where more European genetic contribution was present whereas most of the grandparents of the A- deficient newborns were from the gulf coast states, where the genetic contribution was African.

Pruebas de tamizaje para la detección de errores congénitos del metabolismo / Screenin tests for inborn errors of metabolism

Existe un gran número de errores congénitos del metabolismo asociados a anormalidades clínicas entre las que destaca el retardo mental, y que pueden prevenirse si se detecta y aplica la terapia adecuada y portuna. En este trabajo se presentan los resultados obtenidos aplicando pruebas de tamizaje metabólico (PTM) en 1485 muestras de orina de pacientes de la consulta pediátrica del Hospital General de Zona No. 21 y Hospital Regional de Especialidades No. 25, así como de clínicas del IMSS en el área metropolitana de Monterrey, Nuevo León, a las cuales se les realizaron pruebas químicas cualitativas para la determinación de aminoácidos, mucopolisacáridos, ácidos orgánicos y azúcares, así como cromatográficas. En una segunda ocasión solamente 44.83 y 57.02 por ciento respectivamente, dieron nuevamente una prueba positiva, por lo que se sugiere que médico responsable debe de enviar una segunda muestra con información sobre factores que puedan influir en los resultados

[Frequency of color blindness and glucose-6-phosphate dehydrogenase enzyme deficiency in non-industrialized populations in the state of Nuevo León, México]. / Frecuencia de la ceguera para los colores y de la deficiencia a la enzima glucosa-6-fosfato-deshidrogenasa en poblaciones no industrializadas del Estado de Nuevo León, México.

In order to know if there would be genetic structural differences among non industrial and industrial populations, two genetic markers were studied: color-blindness (CPC) and glucose-6-phosphate dehydrogenase deficiency (G6PD), in students, males and females that were resident in five non industrial populations in the State of Nuevo Leon. The results were compared with the information for industrial zone from the Monterrey Metropolitan area (AMM). It was found that the frequencies of CPC and G6PD in non industrial populations (2.57 and 0.00 per cent), were lower than the ones in the industrial AMM (4.0 and 0.66 per cent), probably as a result that in the first populations, with minor urbanization, the main factors that influence are: natural selection, interacial mixed or genetic drift and the second population is the immigration, since 1940 to present time, of Mexican populations with greater influence from the Indians and Africans.

[Relative frequency of glucose-6-phosphate dehydrogenase deficiency in jaundiced newborn infants in the metropolitan area of Monterrey, Nuevo León]. / Frecuencia relativa de la deficiencia de glucosa-6-fosfato deshidrogenasa (G6PD) en neonatos ictéricos del área metropolitana de Monterrey, Nuevo León.

In order to estimate the frequency of G6PD deficiency in the icteric population of the Monterrey metropolitan área (MMA), in the state of Nuevo León, there were studied 829 newborn males were studied. It was found that 13 subjects were deficient of this enzyme, that is equivalent to a frequency of 1.57% and when this frequency was compared with the one that was found an a previous study in a random sample of newborn males (0.66%) no statistical difference was observed, but it was estimated that the icteric newborn males have a relative risk of 2.34 times higher than the population in general to be a G6PD deficient, and this fact suggests the necessity to establish this screening test as a routine for all icteric newborn males, in order to have an opportune detection and an appropriate counselling.

[Deficiency of glucose-6-phosphate dehydrogenase in a family]. / Deficiencia de glucosa-6-fosfato deshidrogenasa (G6PD) en una familia.

The erytrocyte glucose-6-phosphate deshydrogenase (G6PD) identification and activity were determinated in all member of a family, which was selected because one of the sons showed the clinical signs of hemolitic anemia due to G6PD deficiency and this was confirmed by qualitative fluorescent test, enzyme activity quantification and electrophoretic runs. It was found that two clinically healthy brothers are G6PD deficients and that the mother and one sister are carriers of this enzimatyc defect of the A--variant. As an antecedent it was found that the propositus mother received chloramphenicol treatment for ten days during the first three months of pregnancy. The advantages of the opportune enzymatic studies, with the objective to avoid hemolitic crisis in those G6PD deficient persons, are commented.

Sorbitol dehydrogenase deficiency in several pig tissues: potential implications for studies of experimental diabetes.

Screening for red blood cell sorbitol dehydrogenase deficiency in 12 different mammalian species was performed. A wide inter-species variability in red cell sorbitol dehydrogenase with a virtually complete deficiency in pigs was observed. Aldose reductase and sorbitol dehydrogenase activities in 12 different pig tissues also were measured. Aldose reductase activity was present in all the tissues studied, whereas organ specificity for sorbitol dehydrogenase was observed. Sorbitol dehydrogenase activity was not detectable in lenses, among other tissues, making the pig a potential model for studies in experimental diabetes, particularly for the investigation of sorbitol dehydrogenase deficiency as a risk factor in the development of cataracts.

A fluorimetric method for red blood cell sorbitol dehydrogenase activity.

A new fluorimetric method for the quantification of red blood cell (RBC) sorbitol dehydrogenase is described. It is based on the oxidation of sorbitol to fructose, in presence of NAD+, catalysed by the RBC-sorbitol dehydrogenase. The quantity of NADH formed is then measured in a filter fluorimeter. Comparison with an indirect spectrophotometric assay yielded good correlation; however, the present method offers several advantages: it is more rapid, simple and inexpensive. It should be useful to screen for sorbitol dehydrogenase deficiency in large numbers of individuals, particularly patients with diabetes or cataracts.

Red blood cell sorbitol dehydrogenase deficiency in a family with cataracts.

Sorbitol dehydrogenase (SORD) was quantitatively assayed in a family in which four out of five brothers and their father had bilateral cataracts. Three sibs (two of them with cataracts) and both their father and paternal grandfather had SORD activity of about 25% of the reference values; of the other two affected sibs one had about 50% and the other had 75%; the mother and two paternal uncles had about 75%. These results do not define a clear cataract-SORD deficiency etiopathogenic relationship, nevertheless, they strongly suggest activity polymorphism in human red cell SORD, which would be highly relevant not only to the study of cataracts but of other major complications in diabetes.

Screening for inborn errors of the erythrocyte metabolism in Northwestern Mexico.

Data from a program aiming to the detection of inborn errors of the erythrocyte metabolism (IEEM) in Northwestern Mexican populations are presented. 5,998 individuals were studied and divided in 5 groups: a) 1,022 full-term newborns without jaundice; b) 872 randomly selected full-term newborns; c) 3,243 full-term newborns with jaundice; d) 54 patients with hemolytic anemia, and e) 807 professional blood donors. In groups b, c and d screening for 9 out of 14 IEEM clearly associated with hemolysis was carried out by means of enzymatic fluorescent procedures. In groups a and e only G-6-PD deficiency was investigated. The results suggest that 0.34%, 0.77%, 24% and 0.37% of the individuals from groups b, c, d and e, respectively, have an IEEM. The frequency of G-6-PD deficiency was 0, 0.43%, 1.1%, 30.3% and 0.37% in the males from groups a, b, c, d and e, respectively. The IEEM as a cause of neonatal jaundice seem not to be a public health problem in the studied populations. Systematic screening for: 1) G-6-PD deficiency in newborns with jaundice and 2) IEEM in patients with hemolysis, is recommended.

Sorbitol dehydrogenase (EC.1.1.1.14) polymorphism in human seminal plasma.

Sorbitol dehydrogenase was electrophoretically determined in 173 different samples of human seminal plasma in cellulose acetate as support media. This method permitted the identification of three phenotypes : one with a slow band, one with a fast band and the third with both slow and fast bands. These findings can be explained either by the presence of two alleles at a different SORD locus determining the enzyme in seminal plasma or by the formation of secondary isozymes.

A simple screening procedure for glucose phosphate isomerase, phosphofructokinase, aldolase and glyceraldehyde-3-phosphate dehydrogenase deficiencies.

A simple screening procedure for the detection of glucose-phosphate isomerase (GPI), phosphofructokinase (PFK), aldolase (AL) and glyceraldehyde-3-phosphate dehydrogenase (GAPD) deficiencies in blood, is described. These enzymes catalyze the second, third, fourth, and sixth reactions in the Embden-Meyerhof pathway. The procedure is based on the conversion of glucose-6-phosphate to 1,3-diphosphoglycerate (1,3-DPG) which is catalyzed by the sequential action of the GPI, PFK, AL and GAPD. The presence of the enzyme activities is visually estimated by the reduction of NAD+ (non-fluorescent) to NADH (fluorescent) which occurs when 1,3-DPG is formed. Absence of fluorescence indicates the deficiency of anyone of the four enzymes, which are specified by using separately the PFK, AL and GAPD respective substrates.

Hiperfenilalaninemia. A proposito de tres casos. / Hyperphenylalaninemia.Apropos of 3 cases

Se hizo un estudio a una familia en la que tres hermanos, dos mujeres y un varon, de 16, 12 y 14 anos de edad respectivamente, presentaban retardo mental profundo.De las pruebas cualitativas para la investigacion de los errores metabolicos congenitos las de clorudo ferrico, tira reactiva para determinar fenilalanina y 2,4-dinitrofenilhidrazina fueron positivas en las muestras de orina de los tres pacientes, sugiriendo la excrecion de acido fenilpiruvico, catabolito de la fenilalanina. La cromatografia en papel y en capa fina de muestras de orina, mostro grandes cantidades de fenalalanina. Los resultados de la cuantificacion de los niveles plasmaticos de fenilalanina y tirosina por cromatografia en columna, fueron de 43.6, 34.7 y41.8 y de 1.2, 0.6 y 10 mg/100 ml, respectivamente. El analisis de los datos clinicos y bioquimicos encontrados en estos pacientes y su comparacion con los informados en la literatura para los nueve diferentes tipos de hiperfenilalaninemia, es compatible con um diagnostico de hiperfenilalaninemia tipo I

Estudios bioquimicos en una paciente con enfermedad de orina de jarabe de arce. / Biochemical studies in a patient with maple syrup urine disease

Se presenta los resultados de los estudios bioquimicos cualitativos y cuantitativos realizados en una familia (padres y 2 ninas) en la que el caso indice presento caracteristicas clinicas sugestivas de la enfermedad de orina de jarabe de arce (EOJA). Dos pruebas cualitativas para la deteccion de errores congenitos del metabolismo -cloruro ferrico y 2,4-dinitrofenilhidrazina- fueron positivas en el caso indice. Mediante metodos cromatograficos se encontraron cantidades elevadas de leucina, valina y acido alfa-cetoisocaproico en el plasma y la orina de la proposita. Los leucocitos perifericos de la paciente incubados en presencia de 1,C14-leucina, no fueron capaces de formar 14CO2.Estos resultados confirmaron el diagnostico y sugirieron la forma clasica de la enfermedad. Con la metodologia utilizada no fue posible identificar el estado heterozigoto em ambos padres.En la hermana de la proposita los resultados fueron normales. Se enfatiza la importancia de la deteccion temprana de esta enfermedad con en objeto de establecer la terapia adecuada y ofrecer asesoriamiento genetico

Deficient cell immunity and mild intermittent hyperaminoacidemia in a patient with the Rubinstein-Taybi Syndrome.

A boy aged 2 years 8 months presenting the Rubinstein-Taybi Syndrome (RTS) and a history of recurrent gastrointestinal and respiratory infections was studied. Partial deficient cell immunity and intermittent hyperaminoacidemia and aminoaciduria were ascertained. These findings were interpreted as evidence of phenotypic and probably genetic heterogeneity of RTS.