CASE PRESENTATION: After an uneventful pregnancy and birth, a male newborn of consanguineous parents of Turkish origin presented with watery diarrhoea. [ncbi.nlm.nih.gov]

Secondary lactase deficiency This can occur at any age but most commonly presents in infants and young children. [dieteticallyspeaking.com]

• Pain

  The Pain Assessment and Management section features pain scales and information on pharmacologic and nonpharmacologic management of pain. [books.google.com]

  Babies who cannot properly digest food they are given will often develop gas, abdominal pain, and other uncomfortable symptoms. [pediacare.com]

  Typically these cases will manifest symptoms of pain or diarrhea during the test but are without a rise in breath hydrogen or methane levels. [clinicaladvisor.com]

  These gases also cause bloating, flatulence, abdominal pain and diarrhea. Lactose malabsorption is diagnosed if hydrogen levels are elevated. In the case of lactose intolerance, gastrointestinal symptoms will also occur. [dairynutrition.ca]

• Malnutrition

  Without treatment, they may become dehydrated, lose weight and experience malnutrition. Symptoms usually start during the first week of life when an infant is given breast milk or formula (which will contain lactose) for the first time. [thinkgenetic.com]

  Holzel A, Schwarz V, Sutcliffe KW: Defective lactose absorption causing malnutrition in infancy. Lancet 1:1126–1128, 1959 PubMed Google Scholar 2. Cuatrecasas P, Lockwood DH, Caldwell JR: Lactase deficiency in the adult: A common occurrence. [springerlink.com]

  It occurs very rarely but babies afflicted by this deficiency react severely to the most minimum amount of lactose and suffer from severe diarrhea, dehydration and malnutrition in the first weeks of life. [tellmegen.com]

  Congenital lactase deficiency is extremely rare and manifests at birth as intolerance to breast milk or lactose-based formula with consequent severe diarrhea, acidosis, and malnutrition. [clinlabnavigator.com]

  Psychological factors such as somatic anxiety, stress and depression can also cause the occurrence of these symptoms. (15-18) Lactose malabsorption can also occur temporarily in case of infectious diarrhea, malnutrition, radiotherapy, mucosal damage due [yogurtinnutrition.com]

• Weight Loss

  On day 17, he was admitted to hospital with weight loss, hypertonic dehydration, and metabolic acidosis. Additionally, the patient showed an elevated calcium concentration in blood and urine as well as nephrocalcinosis. [ncbi.nlm.nih.gov]

  Later-arising symptoms that are also commonly seen include dehydration, weight loss and increased acidity of the blood. One symptom that typically is not seen, however, is loss of appetite. [brighthub.com]

  These can include abdominal pain, bloating, cramping, gurgling sounds in the digestive system (borborygmi), gas (flatulence) and diarrhea, and can lead to weight loss in children. [badgut.org]

  If affected infants are not given a lactose-free infant formula, they may develop severe dehydration and weight loss. Lactose intolerance in adulthood is caused by reduced production of lactase after infancy (lactase nonpersistence). [ghr.nlm.nih.gov]

  If you develop any of the following symptoms then you should see a doctor immediately: severe abdominal pain ongoing weight loss change in bowel habits which last longer than 2 weeks blood in poo vomiting blood. [your.md]

• Inflammation

  […] defined by a decrease in haemoglobin (# g/dl per month) with increased need for transfusions, a reticulocyte count should be obtained and typical causes of non-response (e. g. iron, folate, or Vitamin B#-deficiency, aluminium intoxication, infection or inflammation [fi.glosbe.com]

  […] causes of secondary lactase deficiency include: gastroenteritis – an infection of the stomach and intestines coeliac disease – a bowel condition caused by an adverse reaction to a protein called gluten Crohn's disease – a long-term condition that causes inflammation [nhs.uk]

  The sugars remaining unabsorbed move into the large bowel and are fermented • Any condition such cow’s milk, soy, fish protein enteropathy (sensitivity) that leads to inflammation in the small intestine and damage to the enzyme-producing cells • Coeliac [foodsmatter.com]

  Lactose intolerance can occur temporarily in children after a viral infection (that is why you may be told to avoid milk with lactose in it during a stomach bug ) or it may be seen with conditions that lead to inflammation of the intestines, such as celiac [healthychildren.org]

• Asymptomatic

  The patient remained asymptomatic and showed adequate growth in subsequent checkups. Congenital lactase deficiency was first described in Finland in 1959 with an estimated prevalence of 1 in 60,000 inhabitants. [analesdepediatria.org]

• Lactose Intolerance

  However, in lactose intolerance there is a gradual decline in lactase that makes people intolerant of milk and milk-containing products as they grow older. Lactose Intolerance. [thinkgenetic.com]

  You are here: Nutrigenetics » Congenital Lactase Deficiency (CLD, Neonatal Lactose Intolerance) In extremely rare cases, intolerance of lactose during infancy may be caused by congenital lactase deficiency (CLD) with severe, neonatal lactose intolerance [medical-genetics.de]

  Home Diet & Fitness DNA Lactose Intolerance Test $ 129.00 Could your digestive issues be due to lactose intolerance? Almost 65% of people around the world are lactose intolerant to some degree. [dnainthenews.com]

  […] deficiency or a secondary cause of lactose intolerance. [myvmc.com]

  intolerance E73.0 Congenital lactase deficiency E73.1 Secondary lactase deficiency E73.8 Other lactose intolerance E73.9 Lactose intolerance, unspecified E74 Other disorders of carbohydrate metabolism E74.0 Glycogen storage disease E74.01 von Gierke [icd10data.com]

• Diarrhea

  She suffered from severe watery diarrhea from the age of 2 days on breast milk/lactose containing cow's milk formula. With the lactose-free hydrolyzed cow's milk formula, diarrhea was stopped, and she has now developed well on a lactose-free diet. [ncbi.nlm.nih.gov]

  However, severe diarrhea is also very common among these infants. The diarrhea is typically watery, occurs right after feeding, and is not accompanied by vomiting. [pediacare.com]

• Abdominal Pain

  Babies who cannot properly digest food they are given will often develop gas, abdominal pain, and other uncomfortable symptoms. [pediacare.com]

  pain, diarrhea, flatulence and bloating. [dairynutrition.ca]

  CONCLUSIONS Lactose intolerance is a common cause of abdominal pain in older children and teenagers. [pediatrics.aappublications.org]

  Lactose intolerance is the clinical symptoms associated with lactose malabsorption, including diarrhea, bloating and flatulence, abdominal pain, and gaseous accumulation in the intestine in response to a dose of lactose. [ansci.illinois.edu]

  Diagnosis Dietary history of the patient who are complaining flatulance, abdominal pain, diarrhoea.  Familial history of the patient.  Check whether the patient has underwent partial gastrectomy and other related procedures.  Tests – stool acidity [slideshare.net]

• Nausea

  Some of the most characteristic symptoms of lactose intolerance are: stomachache, nausea, diarrhea and gas and its effects vary from person to person in intensity. [tellmegen.com]

  Symptoms Abdominal bloating and cramps  Flatulence  Diarrhoea  Nausea  Borborygmi (rumbling stomach)  Vomiting (particularly in adolescents).  7. [slideshare.net]

  In congenital lactase deficiency, a very rare genetic disorder (affecting fewer than 50 patients in the world, mainly in Finland), lactase activity is drastically reduced or non-existent. (1) Infants with this disease can experience symptoms such as nausea [yogurtinnutrition.com]

  Symptoms include: Bloating Flatulence Diarrhea Nausea Vomiting Abdominal pain or cramps Gurgling and rumbling sounds from the abdomen Recommended Links: Ranciaro A et al. (2014). [dnainthenews.com]

  Symptoms of lactose intolerance include gas, bloating, nausea, abdominal cramping and diarrhoea. [glutenfreecentral.com.au]

• Vomiting

  The infants show uncontrollable, watery diarrhea and vomiting, which causes danger of dehydration. [medical-genetics.de]

  The diarrhea is typically watery, occurs right after feeding, and is not accompanied by vomiting. If their diet is not changed immediately to cut out milk products, the baby may become severely dehydrated and lose weight. [pediacare.com]

  Symptoms Abdominal bloating and cramps  Flatulence  Diarrhoea  Nausea  Borborygmi (rumbling stomach)  Vomiting (particularly in adolescents).  7. [slideshare.net]

  The classical form of galactosemia (where GALT is completely absent) is characterized by vomiting, diarrhea, jaundice and failure to thrive within a few days after birth. [kellymom.com]

  […] very rare genetic disorder (affecting fewer than 50 patients in the world, mainly in Finland), lactase activity is drastically reduced or non-existent. (1) Infants with this disease can experience symptoms such as nausea, abdominal cramps and bloating, vomiting [yogurtinnutrition.com]

• Ulcer

  They can be observed in some gastro-intestinal dysfunctions such as irritable bowel syndrome, inflammatory bowel diseases (Crohn’s disease and ulcerative colitis) and intolerance to FODMAP (Fermentable, Oligo-, Di-, Mono-saccharides And Polyols, which [yogurtinnutrition.com]

  […] gastroenteritis – an infection of the stomach and intestines coeliac disease – a bowel condition caused by an adverse reaction to a protein called gluten Crohn's disease – a long-term condition that causes inflammation of the lining of the digestive system ulcerative [nhs.uk]

  View/Print Table TABLE 3 Leading Differential Diagnoses for Lactose Intolerance Irritable bowel syndrome Regional enteritis Ulcerative colitis Cystic fibrosis Bowel neoplasm or polyp Diverticular disease Iatrogenic: inadvertent ingestion of laxative in [aafp.org]

  Possible causes are intestinal surgery, Crohn's disease, ulcerative colitis, chemotherapy, celiac disease and gastroenteritis. If the underlying condition is chronic, for example, Crohn's disease, the resultant intolerance is often long-term too. [medicalnewstoday.com]

  Ulcerative colitis. Coeliac disease. Cystic fibrosis. Management Avoiding milk and dairy products will relieve symptoms in most. [patient.info]

• Irritability

  […] due to irritable bowel syndrome. [myvmc.com]

  Irritable bowel syndrome: overview. Eur J Gastroenterol Hepatol. 1994;6:457–9. 7. Drossman DA, Whitehead WE, Camilleri M. Irritable bowel syndrome: a technical review for practice guideline development. Gastroenterology. 1997;112:2120–37. 8. [aafp.org]

  Misdiagnosis Irritable bowel syndrome  Crohn's disease  Food poisoning  Gastroenteritis.  Celiac disease.  12. [slideshare.net]

  Over time, large amounts of undigested lactose can irritate the lining of the intestines so that even a little bit passing through can cause irritation. [kellymom.com]

  They can be observed in some gastro-intestinal dysfunctions such as irritable bowel syndrome, inflammatory bowel diseases (Crohn’s disease and ulcerative colitis) and intolerance to FODMAP (Fermentable, Oligo-, Di-, Mono-saccharides And Polyols, which [yogurtinnutrition.com]

• Glucose Increased

  Normally, blood glucose levels should increase 20 mg/dL above the fasting glucose level.Lactase deficient patients usually have a plasma glucose increase of Lactose tolerance tests have a 20% incidence of false positive and false negative results. [clinlabnavigator.com]

Significant updates on bariatric surgery, Barrett's esophagus, endoscopic ultrasound, endosonography, treatment of liver disease, and much more keep you current on the latest advances. [books.google.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Without treatment, they may become dehydrated, lose weight and experience malnutrition. Symptoms usually start during the first week of life when an infant is given breast milk or formula (which will contain lactose) for the first time. [thinkgenetic.com]

Prognosis The prognosis of lactose intolerance is excellent, with many people experiencing improvement of symptoms with dietary restrictions. [myvmc.com]

The onset of symptoms typically occurs in early infancy and the course and prognosis vary depending on the underlying cause.1 Congenital lactose deficiency is caused by very low levels or the absence of lactase-phlorizin hydrolase (commonly known as lactase [analesdepediatria.org]

Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10coded.com]

المحتويات Mapping Disease Loci 199 Complex Etiology 205 References 211 Chapter 4 229 Chronic Granulomatous Disease 255 Molecular Genetics of Chronic Granulomatous Disease 277 Genetics of Steroid Receptors and Their Disorders 299 Implications 348 Hereditary [books.google.com]

Diagnostic evaluation should be directed toward these entities when secondary lactase deficiency is suspected and an infectious etiology is not found. [pediatrics.aappublications.org]

(Genetic test of C/T(-13910) polymorphism can be used as a first stage screening test for adult-type Ongoing controversies regarding etiology, diagnosis, treatment There are no real controversies. [clinicaladvisor.com]

Epidemiology and Etiology Lactose malabsorption is a normal physiologic pattern. 2 The condition occurs in three main types: primary, secondary, and congenital lactase deficiency. [aafp.org]

Relevant External Links for LCT Genetic Association Database (GAD) LCT Human Genome Epidemiology (HuGE) Navigator LCT Atlas of Genetics and Cytogenetics in Oncology and Haematology: LCT No data available for Genatlas for LCT Gene Identification of a variant [genecards.org]

Epidemiology Primary lactase deficiency - affects up to 75% of the world's population (although not all develop symptoms of lactose intolerance) [ 3, 4 ]. [patient.info]

Epidemiological data demonstrate this condition is more common in certain ethnic groups and geographic locations. [clinicaladvisor.com]

Epidemiology and Etiology Lactose malabsorption is a normal physiologic pattern. 2 The condition occurs in three main types: primary, secondary, and congenital lactase deficiency. [aafp.org]

View Article PubMed PubMed Central Google Scholar Sahi T: Genetics and epidemiology of hypolactasia. The genetics and heterogeneity of common gastrointestinal disorders. [bmcgastroenterol.biomedcentral.com]

[…] biochemistry of nutrition 180 Nutritional disorders and their management 200 Clinical biochemistry of the gastrointestinal tract 214 Assessment of hepatic function and investigation of jaundice 231 Acute and chronic liver disease 250 Glucose metabolism and the pathophysiology [books.google.com]

The pathophysiological role of the small intestinal bacterial flora. Scand. J. Gastroent., 5 (suppl. 6):139, 1970. 10) Greenberger, N. J., Saegh, S. & RupPert, R. D.:Urine indican excretion in malabsorptive disorders. [molcom.jp]

Pathophysiology The lactase enzyme is located in the brush border (microvilli) of the small intestine enterocyte. The enzyme splits and hydrolyzes dietary lactose into glucose and galactose for transport across the cell membrane. [aafp.org]

Secondary Lactase Deficiency Secondary lactase deficiency implies that an underlying pathophysiologic condition is responsible for the lactase deficiency and subsequent lactose malabsorption. [pediatrics.aappublications.org]

Prevention In only one of the three types of lactose intolerance can this disorder be prevented. This can be done by preventing the mentioned diseases, some of which are also congenital. [tellmegen.com]

Congenital lactase deficiency Congenital lactase deficiency is a very rare, autosomal recessive genetic disorder that prevents lactase expression from the first feed.  Congenital lactose intolerance is serioue disorder in which the infants may fail to [slideshare.net]

There was a good correlation between the C/C(-13910) genotype and low lactase activity ( How can disaccharidase deficiences be prevented? Primary causes of disaccharidase deficiencies cannot be prevented. [clinicaladvisor.com]

Its deficiency prevents the hydrolysis of lactose and causes osmotic diarrhoea when the child starts breastfeeding.2,3 At first it was believed that CLD was a severe form of lactose intolerance with early onset.4 But while both disorders are due to mutations [analesdepediatria.org]

Thus, diseases that markedly speed up transit of lactose through the small intestine prevent lactose from being fully digested and absorbed, leading to a misdiagnosis of lactose intolerance. [rxlist.com]