Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “GALACTOSEMIA”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 865 records · Page 48Linked to original sources
PubMed1987

Neonatal screening for metabolic and endocrine diseases.

The screening of neonates for metabolic diseases is important in order to identify a population with or at risk for metabolic diseases. Early diagnosis can then be made, treatment instituted and physical and/or mental handicaps due to the disease can be prevented. The World Health Organization's screening criteria are helpful in selecting those diseases appropriate for screening. Usually a state-designated central laboratory performs the screening tests. All states screen for phenylketonuria (PKU) and hypothyroidism; in addition, 26 states screen for galactosemia, 20 for maple syrup urine disease and 19 for homocystinuria. The cost-benefit ratio for screening programs is excellent, varying from 1:13 to 1:20. The necessary follow-up of patients for diagnosis and treatment can be enhanced by maintaining a close liaison with the laboratory and providing adequate information to parents. As a result of instituting a screening program, the incidence of mental retardation due to PKU has been practically eliminated and new insights about metabolic diseases have been obtained. The rapid progress in technology may soon result in better and cheaper tests capable of identifying more diseases amenable to treatment.

Cost-Benefit Analysis↗
PubMed1986

Paediatric liver disorders in Singapore.

The liver in an infant or child is as liable to the same pathologies afflicting the adult liver but with certain differences in prevalence and causes. Genetic disorders are more likely to present in the paediatric age group where many involve metabolic processes such as galactosemia, phenylketonuria, glycogen storage disease and others. Many of these present in the newborn period. However, neoplasms and hamartomas also present in the newborn period, such as congenital neuroblastoma with an enormously enlarged liver, hepatoblastoma and haemangioma. The latter may present with intractable cardiac failure as a result of considerable shunting of blood. Acquired liver lesions often present in the newborn period or early infancy and this includes hepatitis and biliary atresia. The difficulties in the differentiation of the two lesions will be discussed together with the management of biliary atresia. As the child grows older, Reyes encephalopathy with microvesicular fat in the liver is not uncommon. The pathophysiology of Reyes encephalopathy as seen locally will be described. The choledochal cyst with direct (Caroli's disease) or indirect effect on the liver will be described. Problems of childhood portal hypertension as well as congenital hepatic fibrosis will be described. Hemosiderosis of the liver is chiefly seen in homozygous beta-thalassaemia patients who have been kept alive with repeated blood transfusions. Amoebic and pyogenic hepatitis, fatty liver due to protein malnutrition, biliary ascariasis, etc, which are common in tropical and subtropical countries are rarely seen now in Singapore children.

Adolescent↗
PubMed1979

[Hereditary storage diseases of the liver (author's transl)].

Storage diseases of the liver are reviewed, classified according to the clinical symptoms. Glycogen storage diseases go along with enlargement of the liver, - the size of the spleen being normal in the beginning; presenting symptoms in many cases are metabolic disturbances as for instance hypoglycemia. Acute symptoms due to derangement of liver function occur in galactosemia and in hereditary fructose intolerance when uptake of the hexoses is not tolerated. Splenomegaly and hepatomegaly are typical in certain lipid storage diseases; these diseases may as well exhibit hematologic symptoms. Bone dysplasias are discussed finally, which use to go along with enlargement of the liver due to storage of compounds not metabolized.

Bone Diseases, Developmental↗
PubMed1969

Ocular findings in several metabolic diseases.

Changes in ocular findings have been noted in association with several metabolic diseases. In homocystinuria the crystalline lens in the majority of cases is subluxated inferiorly, while in Marfan's syndrome the dislocation was upward. In cystinosis, slit-lamp examination reveals numerous gold crystal-like cystine deposits in both the cornea and bulbar conjunctiva. Patients with galactosemia have cataracts of the "oil drop" type, which usually can be seen with an ophthalmoscope even though the opacity is not dense. Eight patients with Lowe's syndrome who were observed had cataracts, and four of them had severe glaucoma. Three of five patients with glycogen storage disease Type I had yellowish deposits in the macular and paramacular areas, thought to be due to hypercholesterolemia.

Cystinosis↗
PubMed1978

Evaluation of the expanded newborn screening program in New York City.

Since September 1974, New York State public health law has mandated that all newborn infants be tested for phenylketonuria, maple syrup urine disease, homocystinuria, histidinemia, galactosemia, adenosine deaminase deficiency, and sickle cell anemia in accordance with regulations of the state commissioner of health. During the period from May 1, 1975, to April 30, 1976, a total of 110,180 babies born in New York City were tested for these seven conditions. One year's experience with the screening program demonstrated a paucity of technological problems, low observed rate of both false-negatives and -positives, and the expected incidence of the conditions of highest prevalence, incidentally found during screening: i.e., sickle cell traits, AS and AC. What is equally apparent in reviewing this first year's experience is the extent to which the New York State law, its structure, and implementation have fallen short of the ultimate objective. The major reason for this failure is lack of funds and facilities in the areas of education, case retrieval, continuing medical care, and counseling. This report is presented with the hope that it will benefit all involved in genetic screening and especially those concerned with establishing similar programs.

Adenosine Deaminase↗
PubMed1983

Early detection of inborn errors of metabolism in Poland.

A screening programme for early detection of inborn errors of metabolism in Polish newborn population has been evaluated. Guthrie bacterial inhibition assay for amino-acidopathies, Beutler and Baluda test for galactosemia, meconium test and ion-selective chloride electrode for cystic fibrosis, radioimmunological test for congenital hypothyroidism, and multidirectional urine screening test are described and the results discussed.

Amino Acid Metabolism, Inborn Errors↗
PubMed1984

Dual-channel continuous-flow system for determination of phenylalanine and galactose: application to newborn screening.

We describe a dual-channel AutoAnalyzer (Technicon) system for the simultaneous measurement of phenylalanine and galactose from blood specimens on filter-paper. Using a single 1/4-in.-diameter (6-mm) specimen, we measure both components fluorometrically at a rate of 70/h. Analytical recovery with the method and the linearity of measurements vs sample concentration are excellent through the ranges of interest, 0-200 mg/L for phenylalanine and 0-800 mg/L for galactose. Carryover at the critical values during screening, 40 mg/L for phenylalanine and 100 mg/L for galactose, is essentially zero. The dual-channel system provides the means to incorporate a low-incidence test, i.e., galactosemia (incidence 1/70 000), into an existing program for phenylalanine analysis, for which the higher rates (phenylketonuria, incidence 1/11 500) easily justify the cost of mass screening.

Autoanalysis↗
PubMed1983

Reversal of galactose cataract with Sorbinil in rats.

Sorbinil, a potent aldose reductase inhibitor, can effectively block the progression of a galactose cataract even though the cataractous process is well underway. The prevention of dulcitol accumulation by Sorbinil is just as effective in reversing the cataract as the removal of galactose from the diet. The progression and reversal of the cataract were followed by ophthalmoscopy and histology. The results also further support the concept that in galactosemia the cataract is not caused by the toxic effects of galactose per se but by the consequence of the aldose reductase reaction.

Animals↗
PubMed1982

A new method of screening for inherited disorders of galactose metabolism.

A method has been developed for detecting elevated levels of galactose and galactose-1-phosphate in routine blood samples of newborns and has been successfully applied as a screening procedure for galactosemia in several laboratories. The procedure utilizes a strain of Escherichia coli that becomes resistant to bacteriophage C21 in the presence of galactose. The presence of galactose or galactose-1-phosphate is detected as a zone of bacterial growth around blood spots placed on a dish in which the bacteria are otherwise killed by phage. The diameter of the growth zone is proportional to the concentration of total blood galactose. The procedure has the potential of detecting all metabolic abnormalities that can lead to the accumulation of galactose or galactose-1-phosphate. Over a million newborn infants have now been tested by this procedure in three countries. In the New England Regional Screening Program, 12 galactosemic children were detected in 825,403 live births. One additional case, a sibling of a previously diagnosed galactosemic, was not allowed any milk feeding and was detected by an enzymatic test of cord blood. The combined frequency was 1:63,000. No problems of interference by antibiotics were apparent. Use of the test in Switzerland and in Japan also allowed the discovery of infants with UDP galactose 4-epimerase deficiency. Our experience suggests that the test provides an efficient and reliable means of detecting congenital defects of galactose metabolism with a very low frequency of errors. It can also be used to monitor blood galactose levels in the management of galactosemic children.

Bacteriophages↗
PubMed1982

Galactose cataract in Japanese patient.

A Japanese infant was found to have abdominal distension at the age of 4 weeks. A diagnosis of galactosemia was made at 8 weeks of age. Dietary management completely reversed the hepatosplenomegaly and ceased the progression of lens opacities. Mental retardation was also noted at a later age. We believe this is the first reported case of galactose cataract in Japan confirmed enzymatically.

Cataract↗
PubMed1995

Diseases of aberrant glycosylation.

Recently a defective glycosylation of glycoconjugates has been implicated in the pathogenesis of a number of heritable or acquired diseases of humans. Herein I discuss them under the name of diseases of aberrant glycosylation. These are: congenital dyserythropoietic anemia type II, carbohydrate-deficient glycoprotein syndrome, I-cell disease, galactosemia in subjects on galactose-free diet, variants of leukocyte adhesion deficiency, and of Ehlers-Danlos syndrome, paroxysmal nocturnal hemoglobinuria, and Tn syndrome. Regarding the present views on the function of glycoconjugates it is probably significant that in most instances defective or missing glycoproteins (or proteoglycans) but not glycosphingolipids, are probably involved in the pathogenesis of these diseases.

Anemia, Dyserythropoietic, Congenital↗
PubMed1995

Nutritional therapy for pregnant women with a metabolic disorder.

Nutritional therapy is essential for a normal reproductive outcome in phenylketonuric women. In homocystinuria, fetal outcome is good in women whose disorder is responsive to vitamin B6 therapy and is poor in women whose disorder is unresponsive to therapy. Pregnancy in galactosemia is rare because of the almost universal ovarian dysfunction present in female patients with this disorder. Transplantation of the fertilized ovum is a promising possibility for these women. In women with MSUD, there has been only one case of pregnancy reported to date.

Adolescent↗
PubMed1995

Galactose-induced retinal microangiopathy in rats.

PURPOSE: The suitability of the galactose-fed rat as a model of diabetic retinopathy was examined in nondiabetic rats fed diets enriched with either 30% or 50% galactose for up to 2 years. METHODS: Retinal capillaries were examined by light and electron microscopy, and the prevalence or severity of diabetic-like lesions was quantitated. RESULTS: Histologic evaluation of trypsin digests of retina revealed significantly greater than normal frequencies of pericyte ghosts and acellular capillaries at both 15 and 23 months receiving a 50% galactose diet. Similar lesions were observed in rats receiving a 30% galactose diet for 23 months. Capillary basement membrane thickening, dilated hypercellular capillaries (or intra-retinal microvascular abnormalities), and foci of vascular cells appeared in rats fed 50% galactose, but saccular microaneurysms characteristic of retinopathy in diabetic patients, diabetic dogs, and experimentally galactosemic dogs were not observed. Administration of the aldose reductase inhibitor, Sorbinil, to rats fed 50% galactose resulted in a significant inhibition of cataract and of galactitol accumulation in nerve and blood (by more that 90%) and retina (by 62%), but did not inhibit development of the retinal microvascular lesions. CONCLUSIONS: Two years of galactosemia in rats seems to reproduce only a portion of the lesions characteristic of diabetic retinopathy in patients or dogs. Nevertheless, lesions characteristic of at least the early stages of retinopathy clearly do develop in this galactosemic rat model, and are not restrained by inhibition of retinal polyol accumulation by 62%.

Aldehyde Reductase↗
PubMedDate not supplied

Capillary basement membrane in retina, kidney, and muscle of diabetic dogs and galactosemic dogs and its response to 5 years aldose reductase inhibition.

Capillary basement membrane thickening has been compared in retina, renal glomerulus, and leg muscle of dogs alloxan-diabetic 5 years and dogs experimentally galactosemic 5 years, and the effects of inhibition of aldose reductase have been examined. Basement membrane in each site became thickened as a result of either galactosemia or diabetes, but showed appreciable variation among the sites. The thickening of basement membrane in retina and muscle of galactosemic animals was similar in quantity and appearance to that seen in the diabetics, notwithstanding large differences between the two animal models with respect to tissue polyol concentrations and nonenzymatic glycation of hemoglobin and plasma protein. Aldose reductase inhibition was without influence on capillary basement membrane thickening in each tissue from dogs diabetic or galactosemic 5 years, despite substantial polyol path inhibition.

Aldehyde Reductase↗
PubMed1996

The yeast, Saccharomyces cerevisiae, as a model system for the study of human genetic disease.

Many human genes associated with disease have close homologs in yeast. Based on this homology, many human proteins have been studied using yeast expression systems. This paper will review research done in our laboratory using a yeast expression system to study the human protein galactose-1-phosphate uridylyltransferase, associated with galactosemia, as well as highlighting some of the advantages of this model system.

Galactosemias↗
PubMed1996

Liquefaction of cortical tissue in diabetic and galactosemic rat lenses defined by confocal laser scanning microscopy.

PURPOSE: To investigate whether a histologic link exists between osmotic fiber cell swelling and cortical tissue liquefaction in experimentally induced diabetic and galactosemic cataractogenesis of the rat lens. METHODS: Confocal laser scanning microscopy, in conjunction with specific membrane labels and correlative transmission electron microscopy, was used to image large cortical areas with precise definition of the individual cells. RESULTS: In both cataract models, tissue liquefaction--defined as the disintegration of tissue and the appearance of large fluid-filled spaces--typically was limited to a discrete zone in the lens cortex. The borders of the liquefaction zone were characterized by transitions between normal-appearing cells and swollen cells, which gained in size as plasma membranes ruptured and cytoplasmic contents fused and ultimately burst, thereby contributing to the formation of large fluid-filled spaces. During cataractogenesis, before tissue liquefaction became evident, selected fiber cells appeared swollen and accumulated specifically in the zone destined for tissue liquefaction. With increasing duration of diabetes or galactosemia, swollen fiber cells in this zone became more frequent and enlarged, resulting first in tissue disorder and then in tissue disintegration and the formation of large fluid-filled spaces. CONCLUSIONS: New imaging protocols strongly support a direct involvement of lens fiber cell swelling in the liquefaction of cortical tissue. The appearance of swollen fiber cells in the lens cortex, therefore, can be used as an early indicator of the histopathology of sugar cataractogenesis.

Animals↗
PubMed1995

Nutrition in children affected by inherited metabolic diseases.

Diet-therapy represents an elective approach to the treatment of several inborn errors of metabolism. According to the type of disease, dietary intervention can be addressed to three different goals: a) dietary restriction (global or partial) of one or more nutritional components become "toxic" because of the occurring enzymatic defect; b) supplementation with a given defective nutritional component; c) elimination through the use of diet and drugs of the accumulated "toxic" compounds. These interventions are aimed at overtaking the metabolic block and to avoid the accumulation of intermediate "toxic" substrates. The efficacy of the therapy should then be evaluated by means of a thorough biochemical and clinical follow-up (including anthropometric and psychomotor development parameters). In particular, nutritional indexes should be constantly monitored in order to support the dietary therapy, discover and correct any possible nutritional deficiency secondary to the "by exclusion dietary regimen". To elucidate these general principles, we discuss in detail some hereditary diseases of amino acid (phenylketonuria) and carbohydrate (glycogen storage disease and galactosemia) metabolism that, being responsive to the nutritional intervention, can be considered reliable examples of all the problems linked to diagnosis, acute and long-term therapy and follow-up of these diseases.

Amino Acids↗
PubMed1976

Estimation of galactose-1-phosphate in blood spotted on filter paper.

A method is described for the enzymic estimation of galactose-1-phosphate (Gal-1-P) in blood which has been applied to filter paper and allowed to dry. The successful clinical management of patients with galactosemia depends upon exclusion of galactose from their diet. Earlier studies demonstrated that red cell Gal-1-P is a sensitive indicator of exposure of such patients to galactose. These earlier methods, however, required venipuncture, preparation of washed, packed red cells, and shipment of the sample in dry ice to a central laboratory. With the present method, capillary blood can be drawn by a nonphysician, applied to filter paper and mailed in a conventional envelope at ambient temperature. From this sample, the Gal-1-P content of the red cells can be determined, if the hematocrit is known. These conveniences should allow estimates of Gal-1-P at a frequency more appropirate for optimal dietary control.

Child↗