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Outline
Lactose Intolerance
Definition of Lactose Sources of Lactose Absorption of Lactose Definition of Lactose Intolerance - Types of Lactose Intolerance - Clinical Manifestations and their Molecular Basis - Tests and Procedures in Diagnosing Lactose Intolerance - Management
-
Galactosemia
- Galactose
- Metabolic Reactions of
Galactose - Biochemical Effects of Galactosemia - Laboratory Procedures in Diagnosing Galactosemia - Treatment of Galactosemia
Objectives
To define what is lactose
condition To identify the different types of lactose intolerance to galactosemia To know the different tests and procedures in order to diagnose lactose intolerance To identify treatments of lactose intolerance
Objectives
Identify the metabolic reactions that galactose undergo Identify the reason behind some patients failure to
metabolize galactose and develop galactosemia. Identify the biochemical effects of galactosemia and their corresponding clinical manifestations and their molecular explanation Identify the laboratory procedures that can be done to diagnose galactosemia and their corresponding rationale Discuss the treatment of galactosemia Determine reason why galactosemic patients can tolerate milk and other galactose-containing products once they are adults
What is Lactose?
Sources of Lactose
Lactose is found in milk and all foods made with milk, like: Ice cream Sherbet Cream Butter Cheese Cottage cheese Yogurt
Sources of Lactose
Lactose is added to some boxed, canned, frozen, and other prepared foods, like: Bread Cereal Lunch meats Salad dressings Mixes for cakes, cookies, pancakes, and biscuits Frozen dinners Non-dairy coffee creamer
Absorption of Lactose
Absorption of Lactose
Hydrolysis of Lactose
Absorption of Lactose
Lactose Intolerance
It is the inability to metabolize lactose
because of the deficiency of the enzyme lactase. May lead to diarrhea and intestinal discomfort. Lactase deficiency can occur in several ways: Primary Lactase Deficiency Secondary Lactase Deficiency Congenital Lactase Deficiency
most human beings, lactase activity begins to fall after weaning, and is almost completely lost by late adolescence, leading to lactose intolerance.
Deficiency
in these cases are secondary to intestinal diease or damage to the intestinal villi structure or its function.
intolerance, which is the rarest form, is characterized by an infant's inability to produce lactase.
The resultant in vivo fermentation produces: - copious amounts of gas (a mixture of hydrogen, carbon dioxide, and methane), - acidic by products, and - other osmotically active molecules
Clinical Manifestations
Flatulence
Bloating or meteorism
Abdominal cramps Decreased stool pH Diarrhea
standard, simple and non-invasive procedure. Principle: fermentation produces hydrogen that is absorbed in the colon. 15-20% of the hydrogen is exhaled through the lungs. Method: 8 hours fasting, asked to drink lactose load patients breath will be measured for its hydrogen content at regular intervals usually up to 2 hours.
gold
Oral Lactose Tolerance Test. measurement of serum glucose level after the ingestion of a lactose load Principle: lactose is not hydrolysed into galactose and glucose. expected that the serum glucose level of the patient will not rise after lactose load ingestion. Method: 8 hours of fasting patient will be asked to drink a lactose load of 50g. after 2 hour period for blood extraction. The blood will be analysed for serum glucose level.
to detect lactose intolerance among infants. Principle: Lactose metabolism by bacteria due to lactase deficiency produces by products, lactic acid, that causes acidity of the stools. Method: patient is instructed to drink lactose rich fluid. Afterwards, the stool is measured for its acidity.
used
does not only break down to glucose, but also galactose. Some deem that galactose levels more accurately reflect lactase activity Principle: Blood galactose level is measured by inhibiting the liver to metabolize galactose into glucose by ingestion of ethanol prior to intake of lactose load. Method: Ethanol load of 300mg/kg is given to the patient before the intake of lactose load Blood galactose levels are taken
Lactose
Intestinal Biopsy.
A
tissue sample from the distal duodenum or jejunum will be obtained through endoscopy for lactase quantification. This laboratory procedure is the most accurate however; this is also the most invasive among the tests mentioned above
food contain lactose and how much they contain Patients are advised to read labels carefully If unavoidable, divide into several meals combined with solid and dietary fibers
amount of calcium Calcium supplements and food substitution are highly recommended Some of the foods that have high calcium include salmon, shrimp, broccoli, and green leafy vegetables.
Galactosemia
GALACTOSE
What is Galactose?
than glucose. 2. A product from the digestion of the disaccharide, lactose. 3. An epimer of glucose meaning glucose and galactose is mostly equal but except in carbon number 4.
Spinach(raw)
Plums(raw) Kiwi fruit
Basil(fresh)
Celery Cherries( sweet , raw) Peaches(raw)
Galactose Metabolism
enzymes of carbohydrate metabolism are specific enough that galactose must be changed to glucose before it can enter glycolysis. It is the fourth carbon epimer of glucose.
galactose forming galactose-1-phosphate An enzyme called Glucokinase catalyzes this If Glucokinase is diminished or lacking, the process will stop here. (No product of glucoseGalactosemia 2)
uridyltransferase Exchange occurs Problems with the enzyme will cause not to proceed to the next step of conversion(No product of glucose-Galactosemia 1)
A cycle
serves as a donor of galactose units to a number of pathways including the synthesis of lactose, glycoproteins, glycolipids, and cosaminoglycans.
Galactosemia
A rare genetic metabolism disorder that affects an individual's ability to metabolize the sugar galactose properly.
2. Galactosemia II
3. Galactosemia III
GALACTOSEMIA I
classic galactosemia
but begin to develop symptoms after they are given milk for the first time. Symptoms include vomiting, diarrhea, lethargy (sluggishness or fatigue), low blood glucose, jaundice (a yellowing of the skin and eyes), enlarged liver, cataracts.
GALACTOSEMIA II
is caused by defects in both copies of the
gene that codes for an enzyme called galactokinase (GALK). Galactosemia II is less harmful than galactosemia I. Babies born with galactosemia II will develop cataracts at an early age unless they are given a galactose-free diet.
galactosuria
GALACTOSEMIA III
is caused by defects in the gene that codes
for an enzyme called uridyl diphosphogalactose-4-epimerase (GALE). is very rare. Has two types, Type 1 rare Type 2 - benign
that show up on the initial screenings for elevated galactose and galactose-1phosphate. - no symptoms and requires no special diet
Newborn Screening
Galactose-1-Phosphate Uridyltransferase Galactokinase
Molecular Gene Testing Galactosemia Gene Analysis Panel Gene Analysis: Known Mutation Galactose-1-Phosphate Uridyltransferase Phenotyping
TREATMENT
Dietary Restrictions
Nourishing infants
Birth 4 months Choosing a formula
Supplements
Calcium Vitamin D
Why can patients with Galactosemia tolerate milk and other Galactose-containing products once they are adults?
UDP Glucose-Pyrophosphorylase
metabolism which is characterized by the inability of the afflicted individual to metabolize galactose into glucose. Galactose also comes from the hydrolysis of lactose. This being said, part of the management of galactosemia also involves dietary restriction of lactose.
Summary
Lactose is composed of glucose and galactose joined
together by a glycosidic bond. Lactose is mainly found in milk and other dairy products. Digestion, absorption and utilization of disaccaharides happen in the small intestine. For lactose: galactose and glucose are transported into the transport protein the sodium-dependent glucose cotransporter 1 (SGLT-1). It is then transported in the portal circulation via another transporter GLUT2
Summary
Lactose intolerance is the inability to metabolize
lactose because of the deficiency of the enzyme lactase. It has 3 types: Primary, Secondary and Congenital. - Non Absoprtion of Lactose causes 1. flatulence 2. abdominal cramps 3. bloating or meteorism 4. borborygmi 5. Decreased stool pH 6. diarrhea
Summary
- Laboratory procedures include 1. Hydrogen Breath Test 2. Oral Lactose Toelrance Test 3. Stool Acidity Test 4. Lactose Ethanol Load Test 5. Intestinal Biopsy - Management 1. Avoidance of dietary lactose 2. Substitution of food to maintain nutrient intake 3. Regulation of calcium intake 4. Use of enzyme substitution
Summary
Galactose is an alternative source of glucose
products, but it could also be obtained in vegetables Galactose when broken down to glucose, can undergo GLYCOLYSIS for energy.
Summary
* Galactose metabolism is being influenced in the
liver by three enzymes namely: 1. Galactokinase 2. UDP galactose epimerase 3. Galactose 1-phosphate urydyltransferase * Galactosemia is a problem that makes the body unable to use galactose as energy because of lack of enzymes.
Summary
Several Lab tests can be done to diagnose
Galactosemia
Newborn Screening GALT in the blood GALK in the blood GALT Gene Analysis Panel GALT Gene: Known Mutation GALT Phenotyping
Summary
Treatment Dietary Restrictions Supplements Proper monitoring Gene Counseling
Adults can tolerate galactose-containing substances because endogenous production of galactose decreases with age. UDP Glucose Pyrophosphorylase is ynthesized
Case Study
Cherry, a twenty-five year old Asian graduate student in computer science, had been experiencing occasional discomfort after meals. The discomfort reached a new peak last Friday evening about an hour after eating a cheeseburger and a large chocolate milk shake. Cherry spent much of that night in pain. She had abdominal cramps and diarrhea. She went to the clinic the next day. The doctor asked Cherry a number of questions and noted that Cherrys discomfort seemed to be associated with dining out. Cherry told the doctor that on most evenings she cooked for herself, usually preparing traditional Asian cuisine, and that she seldom experienced any discomfort after eating home. Cherry only experienced discomfort after dining out, especially, it seemed, after eating her favourite fast food meal, a double cheese burger and a chocolate shake. When asked if she used very much milk and cheese when preparing meals at home, Cherry told the doctor that she almost never cooked with any dairy product.
Case Study
The doctor recommended to have a test perform to verify the suspicion of having lactose intolerance. At the clinic lab, Cherry was given a lactose rich fluid to drink and had her blood glucose level measured several times over the course of two hours. Later, her doctor informed Cherry that her blood glucose level had not risen after drinking the lactose rich fluid and that was evidence that she was lactose intolerant.
Case Analysis
Cherry was diagnosed by the doctor with lactose
intolerance. The foods that cause her abdominal cramps and diarrhea are double cheese burger and chocolate milkshake. Both the double cheese burger and chocolate milkshake contain significant amount of lactose, thus a good source of lactose. Abdominal cramps happened because of the gas that is produced by the bacteria from the lactose metabolized. Diarrhea occurred because of the presence of osmotically active particles, the undigested lactose which holds water which leads to the said disease.
test, to conclude whether she had lactose intolerance or not. The result from the examination was blood glucose did not rise suggesting lactose intolerance.