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Galactosemia, Or Galactose Diabetes

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Galactosemia, Or Galactose Diabetes EDITORIALS over the years can recall certain patients with whom usually described as glycogen but might be galactogen. each of these measures seemed to be successful. How- In the eyes the lenses often show lamellar or nuclear ever, with none of them is relief obtained with any sig- cataracts. nificant degree of uniformity; and in a situation in The cause of these pathologic cellular changes is de- which various agents appear curative, it is doubtful if batable. Mason and Turner5 blamed the lowering of any is specific. The last word in the management of dia- blood glucose. But the absence of similar cellular damage betic neuropathy remains to be said and the present in disorders such as glycogen storage disease and hyper- state of the problem presents a real challenge to all in- insulinism, associated with low blood sugar, makes this 6 7 terested in diabetes. hypothesis doubtful. Several authors have suggested - ALEXANDER MARBLE, M.D. that the elevated blood galactose was a direct cause of Joslin Clinic, Boston the pathologic cellular abnormalities. Some investigat- ors8- 9 have produced lens opacities in rats by feeding large amounts of galactose. Dam's experiments10 with the GALACTOSEMIA, OR GALACTOSE feeding of galactose to chicks led him to the conclusion DIABETES that galactose damaged the central nervous system. Craig 11 Galactosemia, sometimes called galactose diabetes, is and Maddock have described the production of lens caused by an inborn error of metabolism that leads to opacities by high galactose diet in rats, associated with inability of the body tissues to utilize galactose. The failure of growth, increased urinary nitrogen and amino- aciduria, but without hepatocellular changes. The occur- disorder is characterized by the appearance of a reducing 12 13 substance in the urine, often mistakenly thought to be rence of abnormal amino-aciduria with galactosemia ' glucose but easily identified as galactose, an elevated level suggests that the losses of certain essential lypotropic of galactose in the blood if the diet includes galactose amino acids, due to abnormal renal tubular function, (as in milk), and concomitant pathologic changes in might lead secondarily to some of the pathologic changes various organs. First described by von Reuss in 1908,1 in the liver. there are now approximately 35 cases reported, but un- Although symptoms of the disorder have been noted doubtedly the incidence is much higher than these reports usually after an affected infant was given milk feedings, indicate. Since 90 per cent of the recognized cases have some observers assert that tissue damage may occur in 14 15 been under one year of age, its diagnostic importance utero. ' In most patients the symptoms appear at one mainly concerns physicians who care for infants and or two weeks, but in others not until two or three children. In an infant under one year of age with reduc- months of age. Persistent jaundice often exists, followed ing substance found in the urine, the diagnosis of or accompanied by gastrointestinal difficulties, regurgita- galactosemia should be considered before that of diabetes tion, and occasionally diarrhea with yellow stools. The mellitus.2 infant often fails to gain weight after being offered The metabolic defect appears to be in the enzymes several dietary formulae. Drowsiness, lethargy and con- that convert galactose to glucose-1-phosphate, either vulsions may occur. A direct or collateral family history galactokinase or Waldenase:3 of this disorder may be elicited in approximately 30 per cent of the cases and several reports describe the disease adenosinetriphosphate + galactose (+ galactokinase) 16 18 —» galactose-1-PO4 -f- adenosinediphosphate (-J- Walde- in siblings. " There is no apparent sex linkage. nase) + uridine-diphosphoglucose (coenzyme) —» The most common physical findings are dystrophy, glucose-1-PO4 (-f- phosphorylase) —> Glycogen -j- icterus, pallor, hepatomegaly and lamellar cataracts. Less PO4. common findings are splenomegaly, ascites, petechiae Pathologic anatomic changes are most prominent in with hemorrhagic tendency. Roentgenograms of the long the liver. In the active stage of the disease, areas of bones may reveal osteoporosis. A loss of the Moro re- cellular degeneration and necrosis are found, with bile sponse and absence of tendon reflexes may suggest dam- stasis and a peculiar abnormal pseudoacinar grouping of age of the central nervous system. the hepatic cells, sometimes with fatty metamorphosis.4 Laboratory tests usually reveal elevated blood galac- In untreated or advanced cases, two types of cirrhosis may tose, albuminuria and mellituria, often associated with a appear—the micronodular Laennec's type, and cirrhosis normocytic hypochromic anemia. The urinary reducing associated with post-necrotic scarring. In the kidneys, substance is identified as galactose by the formation the tubular epithelium is swollen, containing what is of the osazone, and mucic acid recovery, and by chroma- 330 DIABETES, VOL. 3, NO. 4 EDITORIALS tography.15'19 Liver function tests may show positive ors22"24 found that when glucose was given with galac- cephalin flocculation, elevated thymol turbidity, direct tose, the galactosemia and galactosuria was less than bilirubin reaction and prolonged prothrombin time. The when galactose was given alone, perhaps owing to de- non-protein nitrogen of the blood may be elevated. The creased absorption of the galactose. Some found25 that glucose tolerance is usually normal but the galactose if glucose metabolism was accelerated by giving glucose tolerance test reveals a prolonged high blood galactose or insulin, galactose tolerance was improved. curve, often with a reciprocal fall in blood glucose. This The deleterious effects of this disorder increase with fall, sometimes extreme, may be a contraindication to its duration, but if it is recognized and treated early, the performance of the galactose tolerance tests. After the prognosis is good. The dramatic prompt disappearance a galactose tolerance test, existent amino-aciduria may of its various manifestations, which follows appropriate increase; also, in a treated case, free of symptoms, the treatment, is a most rewarding experience for the re- performance of a galactose tolerance test may provoke sponsible clinician. Both liver damage and cataracts ap- the reappearance of amino-aciduria.20'21 pear to be reversible even when far advanced. In many After the diagnosis is established, treatment is mainly cases mental retardation seems to be persistent. The first directed to the omission of lactose from the diet. After case reported in America by Townsend, Mason, and the elimination of milk, with substitution of casein Strong,17 when reassessed at 16 years of age, had an hydrolysates (as amigen), the urine becomes free of I.Q. of 64. Long after all signs and symptoms of the galactose usually within 24 hours, and the level of disorder disappear, with successful treatment, the galac- blood galactose diminishes. The infant begins to gain tose tolerance test reveals intolerance for galactose. weight and, varying with the severity of antecedent GEORGE M. GUEST, M.DV and liver damage, the jaundice disappears. The administra- WILLIAM COCHRANE, M.D. tion of amino acid mixtures may serve to replace losses Children's Hospital Research Foundation of essential amino acids in the urine.13 Several investigat- Cincinnati, Ohio REFERENCES 1 von Reuss, A.: Zukerausscheidung im Sauglingsalter. Arch. Dis. Childhood 27:348-50, 1952. Wien. med. Wchnschr. .58:799-803, 1908. 14 Warkany, J.: Personal communications. 2 Jackson, R. L.: Comments on "Infantile Diabetes" by 15 Lockhart, J. D., and Roboz, E.: Case of galactosemia iden- Farrell, H. W., Hand, A. M. and Newcomb, A. L., at 12th tified in a four-day-old by paper chromatographic technic. Pediat. meeting American Diabetes A., Chicago, June 8, 1952. 73:211-17, 1954. 3 Najjar, V. A.: Physiology and disorders of carbohydrate 16 Goppert, F.: Galactosurie nach Milchzuckergabe bei ange- metabolism. J. Pediat. 41:804, 814, 1952. borenem familiarem, chronischem Leberleiden. Berl. Klin. 4 Bell, L. S., Blair, W. C, Lindsay, S., and Watson, S. J.: Wchnschr. 54:473-77, 1917. Galactose diabetes (galactosemia), clinicopathologic study of 2 17 Townsend, E. H., Jr., Mason, H. H., and Strong, P. S.: siblings. J. Pediat. 36:427-39, 1950. Galactosemia and Laennec's cirrhosis; review of literature and 5 Mason, H. H., and Turner, M. E.: Chronic galactosemia; presentation of 6 additional cases. Pediatrics 7:760-73, 1951. report of a case with studies on carbohydrates. Am. J. Dis. 18 Johns, D.: Galactosemia: an unusual course of neonatal Child. 5o:359-74, 342, 1935- jaundice. A.M.A. Am. J. Dis. Child. 85:575-81, 1953. 6 Mellinkoff, S., Roth, B., and MacLaggan, J.: Galactosemia 19 Bray, P. T., Isaac, R. J., and Watkins, A. G.: Galactosemia. with hepatic damage, report of a case in an infant with re- Arch. Dis. Childhood 27:341-47, 1952. covery. J. Pediat. 27:339, 1945. 20 Personal observation. 7 Bruch, E., and Rapoport, S.: Galactosemia in infant with 21 Gellis, S. S., and Hsia, D. Y.: Proceedings, 64th Annual cataracts. Am. J. Dis. Child. 70:267, 276, 1945. Meeting of American Ped. Soc, Buck Hill Falls, Penn., May 8 Goldbloom, A., and Brickman, H. F.: Galactemia. J. 3. 1954- Pediat. 28:674-91, 1946. 22 Corley, R. C.: Factors in the metabolism of lactose. J. Biol. 9 Mitchell, H. S., and Dodge, W. M.: Cataract in rats fed Chem. 74:19-31, 1927. on high lactose rations. J. Nutrition 9:37-49, 1935. 23 Cori, C. F., and Cori, G. T.: Relation between absorption 10 Dam, H.: Galactose poisoning in chicks. Proc. Soc. Exper. and utilization of galactose. II. Effect of glucose and galactose Biol. & Med. 55:57-59, 1944. on the disposal of intravenously administered galactose in the 11 Craig, J. M. and Maddock, C. E.: Observations on the rabbit. Proc. Soc. Exper. Biol. & Med. 25:402-06, 1928. nature of galactose toxicity in rats. A.M.A. Arch.
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