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Lactase intolerance
lactase = enzyme which splits disaccharide lactose
(to glucose and galactose)
Pathomechanisms
a) Activity of lactase is decreased decreased hydrolysis of disaccharide decreased resorbtion of substrate increased concentration of disaccharide in small intestine lumen increased osmotic activity of the lumen fluid diarrhea b) Activity of lactase is decreased increased concentration of disaccharide in small intestine lumen increased concentration of disaccharide in large intestine disaccharide fermentation by bacteria increased concentration of lactic acid and fatty acids stimulation of intestine wall abdominal cramps, bloating, diarrhea, acidic stools, explosive diarrhea
Glycogen Storage Diseases are genetic glycogen enzyme deficiencies associated with excessive glucose-1-P glycogen accumulation Glucose-6-Phosphatase within cells.
glucose-6-P
glucose + Pi
Some enzymes whose deficiency leads to glycogen accumulation are part of the interconnected pathways shown here.
Symptoms in addition to excess glycogen storage: When a genetic defect affects mainly an isoform of an enzyme expressed in liver, a common symptom is hypoglycemia, relating to impaired mobilization of glucose for release to the blood during fasting. When the defect is in muscle tissue, weakness & difficulty with exercise result from inability to increase glucose entry into Glycolysis during exercise. Additional symptoms depend on the particular enzyme that is deficient.
Glycogen Storage Disease Type I, liver deficiency of Glucose-6-phosphatase (von Gierke's disease) Type IV, deficiency of branching enzyme in various organs, including liver (Andersen's disease) Type V, muscle deficiency of Glycogen Phosphorylase (McArdle's disease) Type VII, muscle deficiency of Phosphofructokinase.
Symptoms, in addition to glycogen accumulation hypoglycemia (low blood glucose) when fasting, liver enlargement. liver dysfunction and early death.
inability to exercise.
Galactosemia
Galactosemia
* characteristics galactosemia affects the bodys ability to process galactose (a sugar found in dairy products)
Activation of Galactose
CH2 OH H OH O H OH H H OH H O O P O O O P O O Uridine
Glycolysis
Glucose-6-P Phosphoglucomutase
CH2 OH OH O H OH H H OH H O O P O O P O
UDP-Glucose
CH2 OH OH H O H OH H H OH H OPO3 =
Glucose-1-P
UMP
O O Uridine
Galactose-1-P
UDP-Galactose
Mode of Inheritance
* galactosemia autosomal recessive (a child has to inherit one gene from each parent that is defective) * Galt gene is on chromosome 9
Symptoms of Galactosemia
* symptoms: kidney failure, fine and gross motor skill delays, poor growth, and mental retardation (all as a result of the galactose build-up)
Detection of Galactosemia
* galactosemia appears in approximately 1 in every 30,000 live births and can be detected by a blood test
* galactosemia is a universal genetic disorder everyone has equal chances of getting it
Prognosis
if untreated, 75% of all infants with galactosemia may die galactosemia is treatable
Treatment
the only way to treat galactosemia is by changing one's diet people with galactosemia need to stay away from all foods and drinks that have galactose (ex: milk, cheese, legumes, which are pods like peas or beans)