Lysosomal storage disorders.

This study was conducted to assess the variability of clinical expression of Lysosomal storage disorders (LSDs) and the selection of specific enzyme investigation to reach the differential diagnosis. Initially 150 children in the age range of 15 days to 13 years were screened for common metabolic disorder and based on screening results, clinical signs and symptoms, 30 children(4 mo-12 yr) of these were selected for the leukocyte enzyme study. Of these 21 were confirmed to have LSDs. The most common disorder was GM2-gangliosidosis (47.61%, 10/21) followed by mucopolysaccharidosis (33.33%; 7/21). All showed variable phenotypic expression. Metachromatic leukodystrophy (MLD) was observed in 9.5% (2/21) of children with arylsulphatase A enzyme deficiency, while two children had shown pseudodeficiency of arylsulphatase A. One case each of galactosialidosis and GMI-gangliosidosis were observed. We conclude that children with developmental delay, seizures, dysmorphic features and organomegaly, with or without positive urinary screening for common metabolic disorders, need to be investigated further for LSDs.Variability of clinical expression is commonly observed in LSDs which require further confirmation by specific leukocyte enzyme study.

Morquio-B syndrome (MPS-IV B) associated with beta-galactosidase deficiency in two siblings.

In the present article we describe two cases with Morquio-B syndrome characterized by beta-galactosidase deficiency in a Muslim family. They were found to have skeletal dysplasia, short stature and short trunk dwarfism with undetectable level of beta-galactosidase in leucocytes. Probands' sister who had no clinical signs of mucopolysaccharidosis was investigated and found to have normal levels of the enzyme. Mother was found to have a deficient activity of beta-galactosidase and father was not available for the study. Since mother was pregnant, prenatal study from chorionic cells was carried out to investigate beta-galactosidase activity in the chorionic villus. An intermediate level of beta-galactosidase activity was found in the chorionic villus cells suggesting a carrier status. The diversity and rarity of the study makes it worth presenting.

Lactose intolerance and intestinal villi morphology in Thai people.

OBJECTIVE: To study the relationship of lactose intolerance and intestinal villi morphology in Thai people. MATERIAL AND METHOD: Subjects for this study were patients with functional dyspepsia who had no history of milk allergy and underwent gastroduodenoscopy. Two mucosal biopsy specimens were taken from beyond the distal end of the second part of the duodenum. The specimens were carefully orientated and were graded according to the following scheme: group I: finger shaped villi; group II: mixed finger and leaf shaped villi; group III: clubbing or blunting shaped villi. All subjects were tested for lactose malabsorption by breath hydrogen analysis after consuming 50 gram lactose. Breath hydrogen concentration was analyzed in samples collected intermittently by end-expiratory technique. A rise in breath hydrogen concentration of 20 PPM over baseline was considered evidence of lactose malabsorption. RESULTS: The twenty-five subjects were twenty females (80.0%) and five males (20.0%) who ranged in age from 18 to 53 years (mean 31 +/- 8.29). Sixteen subjects belonged to the finger shaped villi group (64.0%), five to the mixed finger and leaf shaped villi, group (20.0%) and four to the clubbing or blunting shaped villi group (16.0%). Results of breath hydrogen excretion test identified the prevalence of lactose intolerance in 68 per cent of the subjects: 15/16 (93.75%) of group I; 1/5 (20.0%) of group II and 1/4 (25%) of group III respectively (P<0.001). The symptom of diarrhea after lactose loading was correlated well in patients who had positive breath hydrogen analysis. CONCLUSION: As shown in this study, the lactose intolerance is not related to intestinal villi morphology. It is implied that primary lactase deficiency is more common in Thai people than secondary lactase deficiency.

Prevalencia de hipolactasia tipo adulto, en biopsias de tercera porción de duodeno obtenidas por endoscopia en pacientes con indicación clínica de endoscopia digestiva alta

Objetivo: a) determinar la prevalencia de hipolactasa tipo adulto (HTLTA) en biopsias de duodeno obtenidas por endoscopia; b) estandarizar la técnica para determinar actividad de lactasa; compararla con la prueba de tolerancia a la lactosa (PTL) y síntomas de intolerancia; c) establecer la relación entre la HLTA con dispepsia funcional (DF) y síndrome de intestino irritable (SII). Diseño: estudio descriptivo de prevalencia y utilidad diagnóstica. Marco de referencia: muestra consecutiva de pacientes enviados para endoscopia digestiva alta al Hospital San Juan de Dios. Pacientes: 221 de 940 que cumplieron criterios de inclusión. Intervenciones: tres biopsias de tercera porción de duodeno, encuesta estructurada y PTL. Mediciones principales: criterios diagnósticos para DF, SII e intolerancia a la lactosa; actividad duodenal de lactasa; glicemias basal, 30 y 60 minutos postcarga de lactosa. Resultados: el 70.7 por ciento de los sujetos que consumen lácteos presentan sintomas, especialmente expulsión de gases (38.2 por ciento) y 39.4 por ciento presentaban >= dos síntomas. el consumo de lactosa fue equivalente a 290 ml/leche. La actividad de lactasa fue deficiente en el 70.1 por ciento. El consumo de lactosa fue inferior en aquellos con HLTA. La PTL y los síntomas ocacionados por los lácteos no tuvieron utilidad diagbóstica, independiente de la presencia de DF y de SII. Conclusiones: la biopsia de duodeno por EGD es adecuada para la cuantificación de la lactasa intestinal. la prevalencia de HLTA del 70 por ciento fue elevada pero acorde con la literatura; la PTL y la sintomatología ni fueron útiles para su diagnóstico. No se encontró asociación de la HLTA con la presencia de DF y de SII

Irritable bowel syndrome: clinical manifesrtations and relation to lactase deficiency

Eight hundred and four medical students, selected by multistage random sampling, filled a questionnaire, adapted from Manning's criteria for irritable bowel syndrome [IBS]. More than 16% of students were found to fulfil the criteria for IBS. H2 breath test, both fasting and after ingestion of 50 gm lactose, was performed on the 64 students with, and 115 without IBS. There was a statistically significant correlation between the prevalence of IBS and age [p<0.001], while no correlation was found with sex, or marital status. Food intolerance, history of acid peptic disease, and symptoms of dyspepsia were more frequent in students with IBS [p<0.001]. Twenty-five% of the students with IBS had nocturnal symptoms. Lactose intolerance was present in 8% of the study group, with no correlation with IBS. It is concluded that IBS is a common gastrointestinal disorder in Iran and some features are probably different from those described in other geographic regions

Deficiencia secundaria de lactosa en niños y sus implicaciones epidemiológicas / Secondary lactase deficiency and its epidemiological implications

Se revisan las contribuciones que han tenido mayor relevancia en el conocimiento de la deficiencia secundaria de lactasa en los niños. Se hace referencia a la identificación de las diarreas fermentativas, a la descripción de sus particularidades clínicas, a la explicación de sus características fisiopatológicas, a los procedimientos para su diagnóstico, y a su manejo dietético. Se mencionan las enfermedades en cuyas manifestaciones clínicas se asocian las del síndrome por deficiencia de lactasa; con base en esta información, se hacen algunos planteamientos acerca de la magnitud y trascendencia epidemiológica de este problema

Histopathological and histochemical studies on jejunal mucosa in diarrheal disease in infancy and early childhood

The jejunal mucosa of 90% of well nourished children with enteral diarrhea [30 patients] showed definite histopathological changes which varied from mild to severe. The severity of mucosal changes was neither related to the causative organism or degree of dehydration. The jejunal mucosa of 13 marasmic children with enteral diarrhea showed moderate to severe changes while all kwashiorkor patients [7] with diarrhea showed severe changes. Lactase activity as well as fat absorption were positively correlated with the severity of the mucosal changes. Recovery of histopathological changes was slower in malnourished patients

Análisis por cromatografía gaseosa de hidrógeno en aire espirado utilizando un detector de ionización de helio / Analysis by gas chromatography of breath hydrogen utilizing a helium ionization detector

Se analizó el aire espirado por sujetos adultos en una columna cromatográfica de "Tamiz Molecular 5 A", empleándose un detector de ionización de helio. El sencillo procedimiento utilizado para el muestreo del aire espirado y el hecho de haber considerado el nivel del neón atmosférico como patrón interno de las determinaciones del hidrógeno, constituyen un nuevo método analítico preciso y confiable que puede ser aplicado con ventajas en la realización de algunos estudios metabólicos de glúcidos

Deficiencia de lactasa intestinal en la población adulta de La Paz-Bolivia: su relación con dieta, cultura y evolución / Deficiency of intestinal lactase in the adult population of La Paz-Bolivia: its relations ship with diet, culture and evolution

Las crias de mamíferos en general poseen habilidad de metabolizar lactosa de la leche, mediante la enzima lactasa del intestiono. Después del destete los adultos de los mamíferos se hacen deficientes. Entre los humanos son deficientes de lactasa: los aborígenes de Australia 80 a 90%, Chinos, Japoneses, Filipinos y Koreanos de 95 a 100%, negros africanos y americanos 70 a 90%. Poblaciones europeas y caucasoides tienen apenas un 20% de deficientes. En el presente trabajo se encontró una incidencia de 85%, de deficientes de lactasa intestinal en la población adulta de La Paz-Bolivia. Siendo la leche la única fuente natural de lactosa, es ineficaz para un animal continuar con la producción de lactasa intestinal después del destete. En períodos previos de la domesticación de animales granja y la introducción de la leche en la dieta adulta, las presiones de selección natural favorecierón la deficiencia de lactasa. Con la introducción de la leche en la dieta de algunas poblaciones después de la domesticación de animales de granja, las presiones selectivas cambiaron en favor de los productores de lactasa intestinal. Es de esperar que en la medida que nuestra población consuma leche las futuras generaciones se harán lactasa eficientes