Lactose Intolerance: Information for Health Care Providers
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Clinical Applications and Implications of Common and Founder Mutations in Indian Subpopulations
REVIEW OFFICIAL JOURNAL Clinical Applications and Implications of Common and Founder Mutations in Indian Subpopulations www.hgvs.org Arunkanth Ankala,1∗ † Parag M. Tamhankar,2 † C. Alexander Valencia,3,4 Krishna K. Rayam,5 Manisha M. Kumar,5 and Madhuri R. Hegde1 1Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia; 2ICMR Genetic Research Center, National Institute for Research in Reproductive Health, Mumbai, Maharashtra, India; 3Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio; 4Department of Pediatrics, University of Cincinnati Medical School, Cincinnati, Ohio; 5Department of Biosciences, CMR Institute of Management Studies, Bangalore, Karnataka, India Communicated by Arupa Ganguly Received 24 October 2013; accepted revised manuscript 16 September 2014. Published online 27 November 2014 in Wiley Online Library (www.wiley.com/humanmutation). DOI: 10.1002/humu.22704 that include a lack of widespread awareness about genetic disorders in the general population and the scarcity of specialized medical ABSTRACT: South Asian Indians represent a sixth of the world’s population and are a racially, geographically, and professionals and affordable genetic tests. Seeking a molecular di- genetically diverse people. Their unique anthropological agnosis and understanding the risk estimates are critical to making structure, prevailing caste system, and ancient religious sound reproductive choices, especially in families with an affected practices have all impacted the genetic composition of most individual. Adding to this adversity is the absence of a properly func- of the current-day Indian population. With the evolving tioning social health care system and insufficient encouragement socio-religious and economic activities of the subsects and of individual health insurance by the government. -
Incidence of Inborn Errors of Metabolism by Expanded Newborn
Original Article Journal of Inborn Errors of Metabolism & Screening 2016, Volume 4: 1–8 Incidence of Inborn Errors of Metabolism ª The Author(s) 2016 DOI: 10.1177/2326409816669027 by Expanded Newborn Screening iem.sagepub.com in a Mexican Hospital Consuelo Cantu´-Reyna, MD1,2, Luis Manuel Zepeda, MD1,2, Rene´ Montemayor, MD3, Santiago Benavides, MD3, Hector´ Javier Gonza´lez, MD3, Mercedes Va´zquez-Cantu´,BS1,4, and Hector´ Cruz-Camino, BS1,5 Abstract Newborn screening for the detection of inborn errors of metabolism (IEM), endocrinopathies, hemoglobinopathies, and other disorders is a public health initiative aimed at identifying specific diseases in a timely manner. Mexico initiated newborn screening in 1973, but the national incidence of this group of diseases is unknown or uncertain due to the lack of large sample sizes of expanded newborn screening (ENS) programs and lack of related publications. The incidence of a specific group of IEM, endocrinopathies, hemoglobinopathies, and other disorders in newborns was obtained from a Mexican hospital. These newborns were part of a comprehensive ENS program at Ginequito (a private hospital in Mexico), from January 2012 to August 2014. The retrospective study included the examination of 10 000 newborns’ results obtained from the ENS program (comprising the possible detection of more than 50 screened disorders). The findings were the following: 34 newborns were confirmed with an IEM, endocrinopathies, hemoglobinopathies, or other disorders and 68 were identified as carriers. Consequently, the estimated global incidence for those disorders was 3.4 in 1000 newborns; and the carrier prevalence was 6.8 in 1000. Moreover, a 0.04% false-positive rate was unveiled as soon as diagnostic testing revealed negative results. -
Hereditary Galactokinase Deficiency J
Arch Dis Child: first published as 10.1136/adc.46.248.465 on 1 August 1971. Downloaded from Alrchives of Disease in Childhood, 1971, 46, 465. Hereditary Galactokinase Deficiency J. G. H. COOK, N. A. DON, and TREVOR P. MANN From the Royal Alexandra Hospital for Sick Children, Brighton, Sussex Cook, J. G. H., Don, N. A., and Mann, T. P. (1971). Archives of Disease in Childhood, 46, 465. Hereditary galactokinase deficiency. A baby with galactokinase deficiency, a recessive inborn error of galactose metabolism, is des- cribed. The case is exceptional in that there was no evidence of gypsy blood in the family concerned. The investigation of neonatal hyperbilirubinaemia led to the discovery of galactosuria. As noted by others, the paucity of presenting features makes early diagnosis difficult, and detection by biochemical screening seems desirable. Cataract formation, of early onset, appears to be the only severe persisting complication and may be due to the biosynthesis and accumulation of galactitol in the lens. Ophthalmic surgeons need to be aware of this enzyme defect, because with early diagnosis and dietary treatment these lens changes should be reversible. Galactokinase catalyses the conversion of galac- and galactose diabetes had been made in this tose to galactose-l-phosphate, the first of three patient (Fanconi, 1933). In adulthood he was steps in the pathway by which galactose is converted found to have glycosuria as well as galactosuria, and copyright. to glucose (Fig.). an unexpectedly high level of urinary galactitol was detected. He was of average intelligence, and his handicaps, apart from poor vision, appeared to be (1) Galactose Gackinase Galactose-I-phosphate due to neurofibromatosis. -
Lactose Tolerance Blood Test
Lactose tolerance blood test Lactose tolerance tests measure the ability of your intestines to break down lactose, a type of sugar found in milk and other dairy products. How the test is performed The lactose tolerance blood test looks for glucose in your blood. Your body creates glucose when lactose breaks down. For this test, several blood samples will be taken before and after you drink the lactose solution described above. For information on how a blood sample is obtained, see venipuncture. How to prepare for the test You should not eat for 8 hours before the test. Avoid strenuous exercise for 8 hours before the test. How the test will feel There should not be any pain or discomfort when giving a breath sample. When the needle is inserted to draw blood, some people feel moderate pain, while others feel only a prick or stinging sensation. Afterward, there may be some throbbing. Why the test is performed Your doctor may order these tests if you have signs of lactose intolerance. Normal Values The breath test is considered normal if the increase in hydrogen is less than 12 parts per million over your fasting (pre-test) level. The blood test is considered normal if your glucose level rises more than 30 mg/dL within 2 hours of drinking the lactose solution. A rise of 20-30 mg/dL is inconclusive. Note: Normal value ranges may vary slightly among different laboratories. Talk to your doctor about the meaning of your specific test results. The examples above show the common measurements for results for these tests. -
Celiac Disease and Lactose Intolerance
Celiac Disease and Lactose Intolerance HALINA WOJCIK, MPH, RDN, CDN AHRC, NY Celiac – Definition Celiac, also known as coeliac disease, celiac sprue, gluten-sensitive enteropathy, and non-tropical sprue is a genetic, hereditary autoimmune disorder. attributed to the specific genetic markers known as HLA-DQ2 and HLA-DQ8 that are present in affected individuals. Characteristics Sensitivity to amino acids found in the prolamin fraction of wheat (gliadin), barley (hordein), and rye (secalin), commonly known as glutens. When these grains are consumed by persons with celiac disease, they trigger an immune response that results in damage to the person’s mucosa of the small intestine. This damage causes the malabsorption of macronutrients and micronutrients. Source: Nutrition Care Manual. Academy of Nutrition and Dietetics. 2019: Gastrointestinal Disease: Celiac. Available from [https://www.nutritioncaremanual.org ] Comparison of lining of the small intestine in healthy individual and person with Celiac disease Prevalence of Celiac in the United States 1% of population ~ 3 million Americans It’s about the same number of people living in the state of Nevada. In the general US population: 1 in 133 people In people with first - degree relatives (parent, child, sibling) who has celiac: 1 in 22 In people with second degree relatives (aunt, uncle, cousin) who has celiac: 1 in 39 Source: Nutrition Care Manual. Academy of Nutrition and Dietetics. 2019: Gastrointestinal Disease: Celiac. Available from [https://www.nutritioncaremanual.org ] Prevalence of Celiac Disease (CD) in Down Syndrome (DS) Ample of studies suggest that CD is higher in individuals with Down Syndrome. 1 The meta-analysis study ( 31 studies included 4383 individuals) showed that individuals with DS are at very high risk of CD. -
LACTOSE & D-GALACTOSE (Rapid)
www.megazyme.com LACTOSE & D-GALACTOSE (Rapid) ASSAY PROCEDURE K-LACGAR 02/21 Incorporating A Procedure For The Analysis Of “Low- Lactose” Or “Lactose-Free” Samples Containing High Levels Of Monosaccharides (Improved Rapid Format) (*115 Assays per Kit) * The number of tests per kit can be doubled if all volumes are halved The reagents provided in this kit are also suitable for use with AOAC method 2006.06 – Lactose in milk. Patented: US 7,785,771 B2 and EP1 828 407 (GB, FR, IE, DE) © Megazyme 2021 INTRODUCTION: Lactose, or milk sugar, is a white crystalline disaccharide. It is formed in the mammary glands of all lactating animals and is present in their milk. Lactose yields D-galactose and D-glucose on hydrolysis by lactase (β-galactosidase), an enzyme found in gastric juice. People who lack this enzyme after childhood cannot digest milk and are said to be lactose intolerant. Common symptoms of lactose intolerance include nausea, cramps, gas and diarrhoea, which begin about 30 minutes to 2 hours after eating or drinking foods containing lactose. Between 30 and 50 million Americans are lactose intolerant, with certain ethnic and racial populations being more widely affected than others; as many as 75 percent of all African-Americans and Native Americans and 90 percent of Asian-Americans are lactose intolerant. The condition is least common among persons of northern European descent. Enzymic methods for the measurement of lactose are well known and are generally based on the hydrolysis of lactose to D-galactose and D-glucose with β-galactosidase, followed by determination of either D-galactose or D-glucose. -
Mild Galactosemia General Overview
Mild Galactosemia General Overview Q. What is mild galactosemia? A. Mild galactosemia affects the way the body processes the sugar galactose, a component of milk and dairy products. Children with mild galactosemia may have some difficulty processing galactose. As a result, galactose and other by-products can build up in the bloodstream. Q. Is there only one form of galactosemia? A. No, there are several forms. Mild galactosemia is a term used to describe the non-severe forms that usually do not require treatment. Q. How does the body normally process galactose? A. The body normally converts galactose into glucose, which is used for energy. This conversion is made possible by several enzymes. One of these, named galactose-1-phosphate uridyltransferase (GALT), is most often associated with mild galactosemia. Q. What happens to galactose in a child with mild galactosemia? A. In a child with mild galactosemia, the body has some difficulty converting galactose to glucose. This can result in some build-up of galactose and other by-products. Q. What are the effects of having mild galactosemia if it is not treated? A. Most infants who have mild galactosemia have no effects, even without treatment. Depending on the level of enzyme activity and milk intake, some infants may show signs of poor feeding and digestion. Q. What is the treatment for mild galactosemia? A. Mild galactosemia usually does not require treatment. However, some infants may benefit from reduced milk intake. If a child with mild galactosemia has difficulty tolerating breast milk or regular formula, soy based formula can be substituted. -
Management of Food Allergies
Management of Food Allergies Federal Bureau of Prisons Clinical Practice Guidelines September 2012 Clinical guidelines are made available to the public for informational purposes only. The Federal Bureau of Prisons (BOP) does not warrant these guidelines for any other purpose, and assumes no responsibility for any injury or damage resulting from the reliance thereof. Proper medical practice necessitates that all cases are evaluated on an individual basis and that treatment decisions are patient specific. Consult the BOP Clinical Practice Guideline Web page to determine the date of the most recent update to this document: http://www.bop.gov/news/medresources.jsp. i Federal Bureau of Prisons Management of Food Allergies Clinical Practice Guidelines September 2012 Table of Contents 1. Purpose .................................................................................................................................1 2. Food Allergy Overview ........................................................................................................1 3. Food Allergy Assessment .....................................................................................................3 4. Evaluation and Management of Potential Anaphylactic Food Allergies............................4 5. Evaluation and Management of Potential Non-Anaphylactic Food Allergies ...................4 6. Diet Orders ...........................................................................................................................4 Medical Diet Orders/Self-Selection -
Metabolic Liver Diseases Presenting As Acute Liver Failure in Children
R E V I E W A R T I C L E Metabolic Liver Diseases Presenting as Acute Liver Failure in Children SEEMA A LAM AND BIKRANT BIHARI LAL From Department of Pediatric Hepatology, Institute of Liver and Biliary Sciences, New Delhi, India. Correspondence to: Prof Seema Alam, Professor and Head, Department of Pediatric Hepatology, Institute of Liver and Biliary Sciences, New Delhi 110 070, India. [email protected] Context: Suspecting metabolic liver disease in an infant or young child with acute liver failure, and a protocol-based workup for diagnosis is the need of the hour. Evidence acquisition: Data over the last 15 years was searched through Pubmed using the keywords “Metabolic liver disease” and “Acute liver failure” with emphasis on Indian perspective. Those published in English language where full text was retrievable were included for this review. Results: Metabolic liver diseases account for 13-43% cases of acute liver failure in infants and young children. Etiology remains indeterminate in very few cases of liver failure in studies where metabolic liver diseases were recognized in large proportion. Galactosemia, tyrosinemia and mitochondrial disorders in young children and Wilson’s disease in older children are commonly implicated. A high index of suspicion for metabolic liver diseases should be kept when there is strong family history of consanguinity, recurrent abortions or sibling deaths; and history of recurrent diarrhea, vomiting, failure to thrive or developmental delay. Simple dietary modifications and/or specific management can be life-saving if instituted promptly. Conclusion: A high index of suspicion in presence of red flag symptoms and signs, and a protocol-based approach helps in timely diagnosis and prompt administration of life- saving therapy. -
8 LECTURES Gastro-Esophageal Reflux Disease Peptic Ulcer
8 LECTURES Gastro-esophageal reflux disease Peptic Ulcer Disease Diarrhea Malabsorption Inflammatory bowel disease-1 Inflammatory bowel disease-2 Colonic polyps and carcinoma-1 Colonic polyps and carcinoma-2 8 LECTURES Diarrhea Malabsorption DIARREAHA Objectives Upon completion of this lecture the students should : 1. Understand the physiology of fluid in small intestine 2. Describe the pathophysiology and causes of various types of diarrhea ( Secretory, osmotic, Exudative, Motility-related ) 3. Define acute diarrhea and enumerate its common causes 4. Define chronic diarrhea and enumerate its common causes Physiology of Fluid and small intestine DIARREAHA DEFINITION • World Health Organization 3 or more loose or liquid stools per day • Abnormally high fluid content of stool > 200-300 gm/day Fecal osmolarity • As stool leaves the colon, fecal osmolality is equal to the serum osmolality i.e. 290 mosm/kg. • Under normal circumstances, the major osmoles + + – – are Na , K , Cl , and HCO3 . CLASSIFICATION 1.Acute …………….if 2 weeks, 2.Persistent ……. if 2 to 4 weeks, 3.Chronic ………..if 4 weeks in duration. Why important? • The loss of fluids through diarrhea can cause dehydration and electrolyte imbalances • Easy to treat but if untreated, may lead to death especially in children Why important? More than 70 % of almost 11 million child deaths every year are attributable to 6 causes: 1. Diarrhea 2. Malaria 3. neonatal infection 4. Pneumonia 5. preterm delivery 6. lack of oxygen at birth. UNICEF Pathophysiology Categories of diarrhea 1. Secretory 2. Osmotic 3. Exudative (inflammatory ) 4. Motility-related Secretory • There is an increase in the active secretion • High stool output • Lack of response to fasting • Normal stool osmotic gap < 100 mOsm/kg • The most common cause of this type of diarrhea is a bacterial toxin ( E. -
Lactose-Intolerant Kids Should Get Some Dairy
50 Digestive Disorders FAMILY P RACTICE N EWS • October 15, 2006 Lactose-Intolerant Kids Should Get Some Dairy BY MICHELE G. SULLIVAN The document is the first AAP lactose tive Americans, followed by blacks and “The avoidance of milk products to Mid-Atlantic Bureau guideline update since 1990 (Pediatrics Hispanics. The incidence is very low in control symptoms may be problematic 2006;118:1279-86). whites, whose northern European her- for optimal bone mineralization. Children t is usually not necessary to eliminate A statement from the American Dairy itage seems to be protective, according the who avoid milk have been documented to dairy foods from the diets of lactose-in- Council hailed the AAP guidelines as a guidelines. Among white children, symp- ingest less than the recommended Itolerant children and adolescents, and common sense approach to a problem toms typically don’t develop until after age amounts of calcium needed for normal doing so may compromise their long-term that sometimes prevents children from 4 or 5 years; they may manifest earlier in bone calcium accretion and bone miner- skeletal health. getting milk’s unique nutritional package other groups. alization.” Most of these patients still can consume of protein, vitamins, and minerals. Newborns who develop intractable di- Most lactose-intolerant children can enough dairy every day to meet their cal- “Although calci- arrhea after consum- tolerate varying amounts of dairy, de- cium and vitamin D needs, especially if um-fortified bever- Rice and soy milks are not ing any mammalian pending on their individual symptoms: they drink lactose-reduced milk and eat ages and other foods milk product, includ- One glass of milk may be fine, but two yogurt with live cultures and/or aged can provide an alter- good substitutes for dairy ing human milk, may may provoke diarrhea. -
Do Patients with Lactose Intolerance Exhibit More Frequent Comorbidities
ORIGINAL ARTICLE Annals of Gastroenterology (2016) 29, 174-179 Do patients with lactose intolerance exhibit more frequent comorbidities than patients without lactose intolerance? An analysis of routine data from German medical practices Rebecca Schiff nera, Karel Kostevb, Holger Gothea,c University for Health Sciences, Medical Informatics and Technology, Hall in Tirol, Austria; IMS Health, Epidemiology, Frankfurt am Main, Germany; University of Technology Dresden, Dresden, Germany Abstract Background Th e increase in food intolerances poses a burgeoning problem in our society. Food intolerances not only lead to physical impairment of the individual patient but also result in a high socio-economic burden due to factors such as the treatment required as well as absenteeism. Th e present study aimed to explore whether lactose intolerant (LI) patients exhibit more frequent comorbidities than non-LI patients. Methods Th e study was conducted on a case-control basis and the results were determined using routine data analysis. Routine data from the IMS Disease Analyzer database were used for this purpose. A total of 6,758 data records were processed and analyzed. Results Th ere were signifi cant correlations between LI and the incidence of osteoporosis, changes in mental status, and the presence of additional food intolerances. Comparing 3,379 LI vs. 3,379 non-LI patients, 34.5% vs. 17.7% (P<0.0001) suff ered from abdominal pain; 30.6% vs. 17.2% (P<0.0001) from gastrointestinal infections; and 20.9% vs. 16.0% (P=0.0053) from depression. Adjusted odds ratios (OR) were the highest for fructose intolerance (n=229 LI vs.