This presentation will provide an overview of next generation sequencing based testing in hematologic malignancies. C S P F Harmonization: Why You Should Care! Building a Safer Health System" emphasized the importance of clinical practice guidelines to standardize decisions and treatments.
Lactose intolerance Lactose is a disaccharide sugar composed of galactose and glucose that is found in milk.
Lactose can not be absorbed by the intestine and needs to be split in the small intestine into galactose and glucose by the enzyme called lactase ; unabsorbed lactose can cause abdominal pain, bloating, diarrhea, gas, and nausea.
In most mammals, production of lactase diminishes after infants are weaned from maternal milk. The geographic distribution of lactase persistence is concordant with areas of high milk intake.
Lactase non-persistence is common in tropical and subtropical countries. Individuals with lactase non-persistency may experience nausea, bloating and diarrhea after ingesting dairy.
Galactose[ edit ] Galactosemiathe inability to metabolize galactose in liver cells, is the most common monogenic disorder of carbohydrate metabolism, affecting 1 in every 55, newborns. The most common signs are failure to thrivehepatic insufficiency, cataracts and developmental delay.
Long term disabilities include poor growth, mental retardationand ovarian failure in females. A milder form of galactosemia, called Galactokinase deficiencyis caused a lack of the enzyme uridine diphosphate galactoseepimerase which breaks down a byproduct of galactose. This type of is associated with cataracts, but does not cause growth failure, mental retardation, or hepatic disease.
Dietary reduction of galactose is also the treatment but not as severe as in patients with classical galactosemia. This deficiency can be systemic or limited to red blood cells and leukocytes. Screening is performed by measuring GALP urydil transferase activity.
Early identification affords prompt treatment, which consists largely of eliminating dietary galactose. Fructose[ edit ] Fructose malabsorption is a digestive disorder in which absorption of fructose is impaired by deficient fructose carriers in the small intestine's enterocytes. Three autosomal recessive disorders impair fructose metabolism in liver cells.
The most common is caused by mutations in the gene encoding hepatic fructokinasean enzyme that catalyzes the first step in the metabolism of dietary fructose.
Inactivation of the hepatic fructokinase results in asymptomatic fructosuria. Hereditary fructose intolerance HFI results in poor feeding, failure to thrive, hepatic and renal insufficiency, and death.
HFI is caused by a deficiency of fructose 1,6-biphosphate aldolase in the liver, kidney cortex and small intestine. Infants and adults are asymptomatic unless they ingest fructose or sucrose.
Deficiency of hepatic fructose 1,6-biphosphate FBPase causes impaired gluconeogenesis, hypoglycemia and severe metabolic acidemia.
If patients are adequately supported beyond childhood, growth and development appear to be normal. Essential fructosuria is a clinically benign condition characterized by the incomplete metabolism of fructose in the liver, leading to its excretion in urine.
By affected system[ edit ] This is a dynamic list and may never be able to satisfy particular standards for completeness. You can help by expanding it with reliably sourced entries.
Glycolysis[ edit ] The metabolic pathway glycolysis is used by cells to break down carbohydrates like glucose and various other simple sugars in order to extract energy from them.
Glycolysis is taking place in the cytosoland the created pyruvate needs to be transported to the mitochondrionwhere further energy can extracted through the conversion of pyruvate to lactateand through the citric acid cycle CAC see below, c.
The liver can also create glucose gluconeogenesissee below ; during times of low carbohydrate supply from the digestive system, the liver creates glucose and supplies it to other organs.Galactosemia is a rare disorder that affects the body's ability to break down a food sugar called galactose (found in milk and other dairy products).
The body breaks down lactose into galactose and glucose and uses these sugars for energy. a genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency.
Metabolism - inborn errors of Inborn errors of metabolism are rare genetic (inherited) disorders in which the body cannot properly turn food into energy.
The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of food. Start studying Peds. Chap. 25, Week 9 ppt., Quiz 2. Learn vocabulary, terms, and more with flashcards, games, and other study tools.
Argininosuccinic aciduria is an autosomal recessive disorder of the urea cycle.
Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Fatih Ezgu, in Advances in Clinical Chemistry, Abstract. Inborn errors of metabolism are single gene disorders resulting from the defects in the biochemical pathways of the body.
Although these disorders are individually rare, collectively they account for a .