Galactose disorders

Glucose/galactose malabsotption (GGM) is an intestinal monosaccharide (glucose and galactose) transport deficiency. The disorder manifests itself within the first weeks of life. The severe diarrhea and dehydration are usually fatal unless glucose and galactose are eliminated from the diet. Fiuctose and xylose are absorbed normally. Occurrence in both males and females, familial incidence, in particular in parental consanguinity, indicate autosomal recessive inheritance of... 

Classic galactosemia is a rare, autosomal recessive disorder caused by deficiency of galactose 1-phosphate uridyltransferase. 

Tamarindus indicus L. Luo Huang Zi (Tamarind) (stem, fruit) Tannins, beta-amyrin, campesterol, beta-sitosterol, palmitic acid, oleic acid, linoleic acid, eicosanoic acid, arabinose, xylose, galactose, glucose, uronic acid, pectins, mucilage, vitamin B.60-216 Diuretic, purgative, for liver disorders, inappetence, digestion, and hypoglycemic, hypocholesterolemic properties. 

Galactokinase is the enzyme deficient in galactokinase deficiency (MIM 230 200). This disorder is caused by impairment of the pathway step from galactose to galactose-1 -phosphate. 

UDP-galactose-4-epimerase is deficient in epimerase deficiency (MIM 230 350). This disorder is caused by the impaired pathway step from UDP-galactose to UDP-glucose. 

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...

The symptoms in this disorder are relatively mild, and strict limitation of galactose in the diet greatly diminishes their severity. 

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

Galactose 1-phosphate uridyltransferase is missing in individuals with classic galactosemia (see Figure 12.5). In this disorder, galac tose 1-phosphate and, therefore, galactose, accumulate in cells. 

Moran, A.P., Prendergast, M.M., Hogan, E.L. Sialosyl-galactose a common denominator of Guillain-Barre and related disorders J Neurol Sci 196 (2002b) 1-7. 

Moran AP, Prendergast MM, Hogan EL (2002) Sialosyl-galactose A common denominator of Guillain-BaiTe and related disorders J Neurol sci 196 1—7. 

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)... 

Other cotransporters facilitate the transport of other sugars, osmolytes, and amino acids. In humans, a disorder of intestinal glucose and galactose absorption is due to a defective sodium-glucose transporter. 

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