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Galactosemia

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1. Newborn blood spot screening for galactosemia, tyrosiemia type I, homocystinuria, sickle cell anemia, sickle cell/beta-thalassemia, sickle cell/hemoglobin C disease and severe combined immunodeficiency

Newborn blood spot screening for galactosemia, tyrosiemia type I, homocystinuria, sickle cell anemia, sickle cell/beta-thalassemia, sickle cell/hemoglobin C disease and severe combined immunodeficiency Newborn blood spot screening for galactosemia, tyrosiemia type I, homocystinuria, sickle cell anemia, sickle cell/beta-thalassemia, sickle cell/hemoglobin C disease and severe combined immunodeficiency Newborn blood spot screening for galactosemia, tyrosiemia type I, homocystinuria, sickle cell (...) anemia, sickle cell/beta-thalassemia, sickle cell/hemoglobin C disease and severe combined immunodeficiency Institute of Health Economics Record Status This is a bibliographic record of a published health technology assessment from a member of INAHTA. No evaluation of the quality of this assessment has been made for the HTA database. Citation Institute of Health Economics. Newborn blood spot screening for galactosemia, tyrosiemia type I, homocystinuria, sickle cell anemia, sickle cell/beta

2016 Health Technology Assessment (HTA) Database.

2. Developmental Outcomes in Duarte Galactosemia. Full Text available with Trip Pro

Developmental Outcomes in Duarte Galactosemia. : media-1vid110.1542/5849572227001PEDS-VA_2018-2516Video Abstract OBJECTIVES: For decades, infants with Duarte galactosemia (DG) have been identified by newborn screening (NBS), but whether they should be treated with dietary restrictions of galactose has remained unknown. To clarify, we conducted a study of dietary and developmental outcomes in 206 children with DG (case patients) and 144 controls, all of whom were 6 to 12 years old.We recruited

2018 Pediatrics

3. Intrafamilial oocyte donation in classic galactosemia: ethical and societal aspects Full Text available with Trip Pro

Intrafamilial oocyte donation in classic galactosemia: ethical and societal aspects Classic galactosemia is a rare inherited disorder of galactose metabolism. Primary ovarian insufficiency (POI) with subfertility affects > 80% of female patients and is an important concern for patients and their parents. Healthcare providers are often consulted for subfertility treatment possibilities. An option brought up by the families is intrafamilial oocyte donation (mother-to-daughter or sister-to-sister (...) ). In addition to POI, galactosemia patients can also present varying cognitive and neurological impairments, which may not be fully clear at the time when mother-to-daughter oocyte donation is considered. Ethical and societal aspects arise when exploring this option. This study aimed to provide guidance in aspects to consider based on the views of different groups involved in the oocyte donation process. A qualitative study using in-depth semi-structured interviews with > 50 participants (patients, family

2018 Journal of Inherited Metabolic Disease

4. Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research Full Text available with Trip Pro

Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research Clinical outcome of patients with a classical presentation of galactosemia (classical patients) varies substantially, even between patients with the same genotype. With current biomarkers, it is not possible to predict clinical outcome early in life. The aim of this study was to develop a method to provide more insight into galactose metabolism, which allows quantitative assessment (...) of residual galactose metabolism in galactosemia patients. We therefore developed a method for galactose metabolite profiling (GMP) in fibroblasts using [U-13C]-labeled galactose.GMP analysis was performed in fibroblasts of three classical patients, three variant patients and three healthy controls. The following metabolites were analyzed: [U13C]-galactose, [U13C]-galactose-1-phosphate (Gal-1-P) and [13C6]- uridine diphosphate(UDP)-galactose. The ratio of [U13C]-Gal-1-P/ [13C6]-UDP-galactose was defined

2018 Orphanet journal of rare diseases

5. Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt Full Text available with Trip Pro

Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt Classic galactosemia is caused by deficiency of galactose-1-phosphate uridylyltransferase (GALT). It causes serious morbidity and mortality if left untreated. Screening for galactosemia is not included in Egyptian neonatal screening program. The study aimed to define clinical presentation and complications of galactosemia at Pediatric Hepatology Clinic, Cairo University, Egypt (...) . Thus, the clinical presentation, course and outcome of 37 children with documented galactosemia was studied. Jaundice was the main presentation (67.6%). Other presentations included; convulsions (29.7%), motor retardation (24.3%), mental retardation (5.4%), microcephaly (5.4%), failure to thrive (16.2%), hepatomegaly (62.2%), splenomegaly (35.1%), vomiting (16.2%), diarrhea (8.1%), liver cell failure (10.8%), renal tubular acidosis (5.4%), cataract (5.4%), autoimmune hepatitis (2.7%), self

2018 Journal of advanced research

6. Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia Full Text available with Trip Pro

Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia Classic galactosemia is a rare genetic metabolic disease with an unmet treatment need. Current standard of care fails to prevent chronically-debilitating brain and gonadal complications. Many mutations in the GALT gene responsible for classic galactosemia have been described to give rise to variants with conformational abnormalities. This pathogenic mechanism is highly amenable to a therapeutic strategy based (...) on chemical/pharmacological chaperones. Arginine, a chemical chaperone, has shown beneficial effect in other inherited metabolic disorders, as well as in a prokaryotic model of classic galactosemia. The p.Q188R mutation presents a high prevalence in the Caucasian population, making it a very clinically relevant mutation. This mutation gives rise to a protein with lower conformational stability and lower catalytic activity. The aim of this study is to assess the potential therapeutic role of arginine

2018 Orphanet journal of rare diseases

7. The Effect of Arginine on Classic Galactosemia

The Effect of Arginine on Classic Galactosemia The Effect of Arginine on Classic Galactosemia - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. The Effect of Arginine on Classic Galactosemia (ARGALT (...) Study Description Go to Brief Summary: Rationale: Classic galactosemia is a rare inherited metabolic disease that presents in neonatal patients with a life-threatening multi-organ toxic syndrome. Although the current standard of care - a galactose-restricted diet - quickly relieves the severe neonatal clinical picture, it fails to prevent brain and gonadal sequelae. There is a need for new therapeutic strategies. As arginine is an amino acid that is therapeutically widely used with no side effects

2018 Clinical Trials

8. Extreme neonatal hyperbilirubinemia, acute bilirubin encephalopathy, and kernicterus spectrum disorder in children with galactosemia. Full Text available with Trip Pro

Extreme neonatal hyperbilirubinemia, acute bilirubin encephalopathy, and kernicterus spectrum disorder in children with galactosemia. Galactosemia has not been recognized as a cause of extreme neonatal hyperbilirubinemia, although growing evidence supports this association.In a retrospective cohort study, we identified children with galactosemia due to GALT deficiency using the Danish Metabolic Laboratory Database. Among these, we identified children with extreme neonatal hyperbilirubinemia (...) or symptoms of ABE. Extreme neonatal hyperbilirubinemia was defined as maximum total serum bilirubin (TSBmax)) level ≥450 µmol/L and a ratio of conjugated serum bilirubin/TSB <0.30.We identified 21 children with galactosemia (incidence:1:48,000). Seven children developed extreme neonatal hyperbilirubinemia (median [range] TSBmax level: 491 [456-756] µmol/L), accounting for 1.7% of all extreme neonatal hyperbilirubinemia cases. During the first 10 days of life, hyperbilirubinemia was predominantly

2018 Pediatric Research

9. Sweet and sour: an update on classic galactosemia Full Text available with Trip Pro

Sweet and sour: an update on classic galactosemia Classic galactosemia is a rare inherited disorder of galactose metabolism caused by deficient activity of galactose-1-phosphate uridylyltransferase (GALT), the second enzyme of the Leloir pathway. It presents in the newborn period as a life-threatening disease, whose clinical picture can be resolved by a galactose-restricted diet. The dietary treatment proves, however, insufficient in preventing severe long-term complications, such as cognitive (...) , social and reproductive impairments. Classic galactosemia represents a heavy burden on patients' and their families' lives. After its first description in 1908 and despite intense research in the past century, the exact pathogenic mechanisms underlying galactosemia are still not fully understood. Recently, new important insights on molecular and cellular aspects of galactosemia have been gained, and should open new avenues for the development of novel therapeutic strategies. Moreover

2017 Journal of Inherited Metabolic Disease

10. Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia Full Text available with Trip Pro

Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia Patients with classic galactosemia, a genetic metabolic disorder, encounter cognitive impairments, including motor (speech), language, and memory deficits. We used functional magnetic resonance imaging to evaluate spontaneous functional connectivity during rest to investigate potential abnormalities in neural networks. We characterized networks using seed-based correlation analysis (...) with the clinical phenotype. Our findings contribute to improved characterization of brain impairments in classic galactosemia and provide directions for further investigations.

2017 Scientific reports

11. Impaired fertility and motor function in a zebrafish model for classic galactosemia Full Text available with Trip Pro

Impaired fertility and motor function in a zebrafish model for classic galactosemia Classic galactosemia is a genetic disorder of galactose metabolism, caused by severe deficiency of galactose-1-phosphate uridylyltransferase (GALT) enzyme activity due to mutations of the GALT gene. Its pathogenesis is still not fully elucidated, and a therapy that prevents chronic impairments is lacking. In order to move research forward, there is a high need for a novel animal model, which allows organ studies (...) exposure to exogenous galactose, they exhibit reduced motor activity and impaired fertility (lower egg quantity per mating, higher number of unsuccessful crossings), resembling the human phenotype(s) of neurological sequelae and subfertility. In conclusion, our galt knockout zebrafish model for classic galactosemia mimics the human phenotype(s) at biochemical and clinical levels. Future studies in our model will contribute to improved understanding and management of this disorder.

2017 Journal of Inherited Metabolic Disease

12. Rigor of non-dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long-term outcomes quantified in 231 children and adults with classic galactosemia Full Text available with Trip Pro

Rigor of non-dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long-term outcomes quantified in 231 children and adults with classic galactosemia One of many vexing decisions faced by parents of an infant with classic galactosemia (CG) is how carefully to restrict non-dairy galactose from their growing child's diet. Until recently, many experts recommended vigorous lifelong dietary restriction of milk and all high (...) with classic galactosemia.

2017 Journal of Inherited Metabolic Disease

13. False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency Full Text available with Trip Pro

False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency Classical galactosemia is detected through newborn screening by measuring galactose-1-phosphate uridylyltransferase (GALT) in the USA primarily via the Beutler spot assay. We report on an 18-month-old patient with glucose-6-phosphate dehydrogenase (G6PD) deficiency that was originally diagnosed with classical galactosemia. The patient presented with elevated liver function (...) was negative. Quantitative analysis of G6PD enzyme in red blood cells showed a severe deficiency and a deletion in G6PD. Soy-formula, the standard treatment for galactosemia, has been reported to trigger hemolysis in G6PD deficient patients. G6PD and phosphoglucomutase-1 deficiencies should be considered when confirmatory tests are negative for pathogenic variants in GALT and galactose-1-phosphate level is normal.

2017 JIMD reports

14. Neonatal Screening: Cost-utility Analysis for Galactosemia Full Text available with Trip Pro

Neonatal Screening: Cost-utility Analysis for Galactosemia Galactosemia is a congenital metabolic disorder that can damage the health of a newborn. Screening is an important step to prevent and treat this condition. Due to increasing health care costs and limited financial resources of health systems, the most suitable economic analysis tool should be applied. The aim of this study was to analyze the cost-utility of neonatal screening program for diagnosing galactosemia in Fars province (...) , Iran.In this cross-sectional study and cost-utility analysis in the cost of screening for galactosemia and its financial effects, decision tree model and society's viewpoint were used. The population of study was 81837 infants referred to Neonatal Screening Laboratory (Nader Kazemi Clinic) affiliated to Shiraz University of Medical Sciences (SUMS), Iran, in 2010. Quality of life in two groups of patients was evaluated by using the time trade-off. The best intervention option was selected by using

2017 Iranian journal of public health

15. Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia. Full Text available with Trip Pro

Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia. Cognitive impairment is a well-known complication of classical galactosemia (CG). Differences in patient characteristics and test methods have hampered final conclusions regarding the extent of intellectual disabilities in CG. The primary aim of this systematic review was to assess intellectual performance in early-treated (≤4 weeks of life) individuals with confirmed CG

2017 JIMD reports

16. Fertility in adult women with classic galactosemia and primary ovarian insufficiency. Full Text available with Trip Pro

Fertility in adult women with classic galactosemia and primary ovarian insufficiency. To study pregnancy chance in adult women with classic galactosemia and primary ovarian insufficiency. Despite dietary treatment, >90% of women with classic galactosemia develop primary ovarian insufficiency, resulting in impaired fertility. For many years, chance of spontaneous conception has not been considered, leading to counseling for infertility. But an increasing number of reports on pregnancies (...) in this group questions whether current counseling approaches are correct.Multicenter retrospective observational study.Metabolic centers.Adult women (aged >18 y) with confirmed classic galactosemia and primary ovarian insufficiency were included.Participants and medical records were consulted to obtain study data in a standardized manner with the use of a questionnaire.Conception opportunities, time to pregnancy, pregnancy outcome, hormone replacement therapy use, fertility counseling, and the participants

2017 Fertility and Sterility

17. Galactosemia

Galactosemia Galactosemia Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Galactosemia Galactosemia Aka: Galactosemia , GALT (...) Deficiency II. Epidemiology Identified in newborn period III. Pathophysiology trait Galactose-1-Phosphate Uridyl Transferase Deficiency Most common of 3 genetic defects causing Galactosemia Failure to convert galactose to Results in fatty of the liver IV. Symptoms Presentation follows milk ingestion after days to weeks Dehydration Lethargy Weight loss V. Signs Growth Failure or (see ) s Hypotonia VI. Labs Galactosemia Erythrocyte Galactose-1-Phosphate uridyl transferase Activity diminished s increased

2018 FP Notebook

18. Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations. Full Text available with Trip Pro

Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations. Classical Galactosemia (CG) is an inborn error of galactose metabolism caused by the deficiency of the galactose-1-phosphate uridyltransferase enzyme. It is transmitted as an autosomal recessive disease and is typically characterized by neonatal galactose intolerance, with complications ranging from neonatal jaundice and liver failure to late complications, such as motor (...) and reproductive dysfunctions. Galactosemia is also heterogeneous from a molecular standpoint, with hundreds of different mutations described in the GALT gene, some of them specific to certain populations, reflecting consequence of founder effect.This study reviews the main clinical findings and depicts the spectrum of mutations identified in 19 patients with CG, six with Duarte Galactosemia and one with type 2 Galactosemia in Brazil. Some individuals were diagnosed through expanded newborn screening test

2016 BMC Medical Genetics

19. Clinical, molecular, and genetic evaluation of galactosemia in Turkish children Full Text available with Trip Pro

Clinical, molecular, and genetic evaluation of galactosemia in Turkish children Galactosemia is a carbohydrate metabolism disorder with autosomal recessive inheritance. The most frequent enzyme deficiency is galactose-1-phosphate-uridylytransferase, which causes classic galactosemia. When the enzyme is absent, an infant cannot metabolize galactose-1-phosphate and it cumulates in liver, kidney, brain, tongue, lens, and skin. This study aimed to evaluate the clinical and molecular characteristics (...) of patients with galactosemia, which is observed more frequently in our country than anywhere else in the world.This is a retrospective study that includes the moleculer and genetic charcteristics of 14 patient who were diagnosed as having galactosemia between January 2009 and January 2011.Nine patients were male and 5 female. Consanguineous marriage was detected in the family history of 7 patients. One patient had a history of a deceased sibling with a confirmed diagnosis of galactosemia. The main

2016 Turkish Archives of Pediatrics/Türk Pediatri Arşivi

20. Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase Full Text available with Trip Pro

Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase Classic galactosemia is a potentially lethal disease caused by the dysfunction of galactose 1-phosphate uridylyltransferase (GALT). Over 300 disease-associated GALT mutations have been reported, with the majority being missense changes, although a better understanding of their underlying molecular effects has been hindered by the lack of structural information for the human enzyme. Here

2016 Human molecular genetics

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