Galactose metabolic disorders

Brain Damage in Phenylalanine, Homocysteine and Galactose Metabolic Disorders... 

As described above, phenylalanine, homocysteine, and galactose metabolic disorders affect brain function, the latter being profoundly or partially avoided by early diagnosis and proper treatment. As the ancient Greek doctor Hippocrates said, Prevention is better than treatment . 

Table 4.7.3 Concentrations of polyols in urines of patients with metabolic disorders, as determined by method 1. Concentrations are in mmol/mol creatinine (age-controlled reference range). Bold values are above the reference range. Dist. Disturbed peak, not quantifiable due to interference from a coeluting fragment of C6-polyols, GALT galactose-1-phosphate uridyltransferase, n.d. not detectable, RPI ribose-5-phosphate isomerase, TALDO transaldolase...

Novelll, G. Reichardt, J.K. (2000) Molecular basis of disorders of human galactose metabolism past, present, and future. 

Erin Galway has galactosemia, which is caused by a deficiency of j galactose 1-phosphate uridylyltransferase it is one of the most common genetic diseases. Galactosemia is an autosomal recessive disorder of galactose metabolism that occurs in about 1 in 60,000 newborns. Approximately two... 

Acosta PB. Nutrition management of patients with inherited disorders of galactose metabolism. In Acosta PB, editor. Nutrition management of patients with inherited metabohc disorders. Sudbury, Massachusetts Jones and Bartlett Pubhshers, LLC 2010. p. 476. 

The disorders of galactose metabolism are commonly detected by neonatal screening. Symptoms occur following the ingestion of lactose/galactose-containing formulas. 

A. When a disorder in galactose metabolism is suspected, especially in GALT and GALE, elimination of dietary lactose/galactose from the diet shotild be initiated immediately even before the diagnosis is confirmed by enzyme assay and/or DNA analysis. 

Gitzelmann R (2000) Disorders of galactose metabolism. In Inborn metabolic diseases, Fernandes J, Saudubray J-M, van den Berghe G (eds). Springer-Verlag Berlin Heidelberg New York, 3rd edition 201-209. 

Further reading Segal, S. (1978). Disorders of galactose metabolism. In Stanbury, J.B., Wyngaarden, J.B. and Fredrickson, D.S. (eds.) The Metabolic Basis of Inherited Disease. 4th Edn., p. IM. (New York McGraw-Hill)... 

Health Problems from Milk. Several metabolic disorders are found in certain individuals when milk is introduced into the diet among them, milk allergy, lactose intolerance, milk intolerance, galactose disease, milk anemia, or following gastric surgery. 

Hereditary fructose intolerance is caused by an autosomal recessive hereditary defect of the enzyme fructose-l-phosphate aldolase. Whenever fructose is supplied, severe hypoglycaemia and functional disorders occur in the liver, kidneys and CNS. The prevalence is estimated at 1 20,000 births. As with galactose intolerance, the gene which codes aldolase B is also localized on chromosome 9. This enzyme defect causes fructose-l-phosphate to accumulate in the liver and tissue. The cleavage of fructose-1,6-biphosphate is only slightly compromised since the enzymes aldolase A and C are available for this process. The consumption of phosphate and ATP in the tissue results in various functional disorders (i.) inhibition of gluconeogenesis in the liver and kidneys, (2.) increase in lactate in the serum with metabolic acidosis, (3.) decrease in protein synthesis in the liver, and (4.) functional disorders of the proximal tubular cells with development of Fanconi s syndrome, (s. pp 593, 594) (193, 194, 196, 198)... 

Storage diseases Some of the genetic metabolic diseases require special dietary measures, e.g. (1.) disorders of the urea cycle are treated by means of a diet similar to that applied in encephalopathy (s. p. 594), (2.) Gierke s disease necessitates a high-carbohydrate diet (s. p. 595), (i.) Cori s disease is treated with formula diets and a starch diet (s. p. 596), (4.) galactosaemia requires a galactose-and lactose-free diet (s. p. 597), and (5.) in fructose intolerance, a fructose- and saccharose-free diet must be given, (s. p. 597)... 

This chapter deals with disorders of galactose, fructose and glycogen metabolism. The clinical presentations of these disorders can be mild or severe and life-threatening. The clinical features include failure to thrive, hepatomegaly, hypoglycemia, jaundice, metabolic acidosis, and myopathy including muscle pain and weakness. 

Galactose is a simple sugar formed when lactose, a carbohydrate in milk, is hydrolyzed. Individuals with galactosemia, a rare inherited disorder, lack an enzyme needed to metabolize galactose, and must avoid cow s milk and all products derived from cow s milk. Galactose is a stereoisomer of glucose (Problem 4.63). 

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