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GALACTOSE

GALACTOSE METABOLISM
Galactose is an aldo hexose. 4th Epimer of glucose. Important constituent of milk and milk products. Galactose and Glucose are obtained from the hydrolysis of disaccharide lactose by galactosidase. Galactose metabolism takes place in liver.

Galactose tolerance test is done to assess the function of liver. UDP galactose is the active donor of Galactose during synthetic reactions. Galactose is utilised for - Synthesis of lactose during lactation period. - Synthesis of Glycolipids. - Synthesis of Glyco proteins. - Synthesis of Glycosaminoglycans.

Epimerase UDP galactose Lactose synthase UDP- galactose + D-glucose == UDP + lactose. There are no catabolic pathways to metabolize galactose so the strategy is to convert galactose into a metabolite of glucose. UDP glucose

GALACTOSE METABOLISM

Inherited disorder. Inheritance: Autosomal recessive. The most common form, called classic galactosemia, is an inherited deficiency in galactose 1-phosphate uridyl transferase activity. Afflicted infants fail to thrive.

They vomit or have diarrhea after consuming milk, and enlargement of the liver and jaundice are common (Bilirubin Uptake is low), sometimes progressing to cirrhosis. Cataracts will form, and lethargy and retarded mental development also are common the child may live to adulthood but suffer reproductive and brain disorders.. Diagnosis: The blood-galactose level is markedly elevated, and galactose is found in the urine. Amniocentesis

The most common treatment is to remove galactose (and lactose) from the diet. A cataract is the clouding of the normally clear lens of the eye. If the transferase is not active in the lens of the eye, the presence of aldose reductase causes the accumulating galactose to be reduced to galactitol.

Galactosemia

Alternate pathway: Gal 1-P pyrophosphorylase Galactose 1-P UDP Galactose Will be activated after 4-5 years. Galactokinase deficiency: Symptoms are milder.

Mucopolysaccharidosis MPS. A group of inherited disorders characterized by a deficiency of enzymes that are essential for the degradation of the mucopolysaccharides heparan sulfate, dermatan sulfate, and keratan sulfate.

These chemicals are excreted in excess quantities in the urine, and they usually accumulate in macrophages, the central nervous system, endothelial cells, intimal smooth muscle cells, and fibroblasts throughout the body. which leads to problems in CNS, vascular system.

But the inherited defect can be diagnosed prior to birth by culturing amniotic fluid cells and testing them for specific enzyme activity. After birth, the conditions may be diagnosed by testing cultured skin fibroblasts for specific enzymes.

HUNTER SYNDROME: Autosomal recessive. Deficient enzyme: Sulpho iduronate sulphatase. Accumulation: Dermatan sulphate, Heparan sulphate. Gargoyle face (coarse facies) , short stature, skeletal dysplasia, Mental retardation.

HURLER SYNDROME: X-linked recessive. Deficient enzyme: -Iduronidase. Accumulation: heparan sulphate, dermatan sulphate. Clinical picture: Same as that of Hunter s + Corneal clouding. Fatal in childhood.

Morquio s: autosomal recessive. Enzyme deficient: Galactosamine sulfatase, - Galactosidase. Accumulation of Keratan sulfate & Chondroitin sulfate. Clinically, there are dwarfism, thoracolumbar gibbus (hunchback), Spondylo epiphyseal dysplasia Faulty growth and ossification of epiphyses. coarse facies, No mental retardation.

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