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The metabolism of galactose in galactosemia
7 1 0 Abstracts
more, Md. To be published in full elsewhere. 20. Carbohydrate Tolerance in Dwarfism with
Hypoglycemia. Effects of Human Growth Hormone, ACTH, and Triiodothyronine.
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Orville C. Green and Matthew Steiner, Chicago, I11. Respiratory Distress Syndrome and the High Risk Patient. Stanley M. Graven* and Harold R. Mesenhimer,* Lackland AFB, Texas, Madison, Wis., and Baltimore, Md. To be published in full elsewhere. Cardiovascular Findings in Children with Sickle Cell Anemia. Manuel Ng,* Jerome Liebman,* Joseph Anslovar,* and Samuel Gross, Cleveland, Ohio. Factors Controlling Pulmonary Vascular Re. sistance in Fetal Lambs. R. M. Lauer, J. A. Evans,* H. Aoki,* and C. F. Kittle, Kansas City, Kan. To be published in full elsewhere. Urine Cytology in Children Vaccinated with Oral Poliovirus Vaccine. Audrey F. Hart* and James D. Cherry, Madison, Wis. To be published in full elsewhere. The Development of Malignant Reticuloendotheliosis in the Coarse of WiskottAldrich Syndrome. R. W. ten Bensel,* E. M. Stadlen,* and W. Krivit, Minneapolis, Minn. Human Cytomegalovirus: Complement Fixation Studies. John C. Herweg and Helen K. Thornton,* St. Louis, Mo. To be published in full elsewhere. Erythrocyte Ghicose.6-Phosphate Dehydrog. chase from Deficient Human Subjects--Evidence for 4 Types. P. V. C. Pinto,* W. A. Newton, Jr., and K. E. Richardson, Columbus, Ohio. To be published in full elsewhere. A New Syndrome Associating Skeletal Deformities and Blood Cell Abnormalities. Peter Dignan~ and Alvin M. Mauer, Cincinnati, Ohio.
1. The metabolism o[ galactose in galactosemla T. J. Egan, W. W. Wells, H. J. Wells, and T. A. Pittman, Pittsburgh, Pa. Utilizing the technique of gas-liquid chromatography, urine specimens from 3 newly discovered galactosemic patients were examined and found to contain unusual amounts of two nonreducing sugars identified as sucrose and galactitol. Serum obtained in one case prior to dietary therapy demonstrated peaks identified as galactose (50 rag. per cent), glucose (45 mg. per cent), and galactito1 (8 mg. per cent). Following dietary therapy, galactose rapidly disappeared from the serum and
October 1965
urine, but galactitol continued to be excreted for several days in diminishing concentration. A 17year-old galactosemic male, who had not restricted his diet for several years, was studied. Urine was collected in 12 hour aliquots and analyzed for galactose and galactitol; in daytime collection there were 149 mg. galactose and 242 mg. of galactitol. The overnight specimen contained no galactose and 179 mg. of galactitol. The serum glucose level after a 12 hour fast was 104 rag. per cent; there were no detectable amounts of galacrose or galactltol. Examination of fresh frozen brain tissue and brain tissue extract of 2 presumptive galactosemic patients revealed a large accumulation of galactitol. The fresh frozen galactosemic brain was calculated to have 12.9 #M of galactitol per gram of tissue. Analysis of fresh frozen brain from a control patient revealed the absence of detectable amounts of galaetitol. The presence of aeyclie polyols in mammalian tissue has been considered a rare finding confined to specialized tissue such as the lens of the galactose-fed rat. The finding of galactitol in the urine of galaetosemic patients ingesting lactose or galacrose and the large amounts of galactitol found in the brains of 2 presumptive galactosemic patients suggest a new possibility for study as the "toxic agent" in galactosemia. DISCUSSION D~. WILLIAM KRIVIT, Minneapolis. Were liver transferase levels done? Have you put galactitol into red cells to see if it interferes with the glycolytic cycle? Is the half life of such red cells normal ? DR. EOAN. We did not do transferase enzyme studies in the liver of these patients. In answer to your second question, we are performing such studies at present. DR. JoHN M. OPITZ, Madison. Did you look for galactitol in proved heterozygotes? DR. EOAN. No.
2. The nature o[ the disturbance o[ tryptophan metabolism in phenylktonuria Henry L. Nadler, Julian L. Berman, and David Yi-Yung Hsia, Chicago, Ill. This paper describes studies designed to determine the nature of the disturbance of tryptophan metabolism in phenylketonuria. Fasting serum tryptophan was determined by the method of Duggan and Udenfriend (J. Biol. Chem. 293: 313, 1956). The mean standard deviation for 15 controls was 1.00 -+ 0.13 rag. per cent; for 15 untreated phenylketonurics, 5.97 -+ 0.63 mg. per cent; and for 4 treated phenylketonurics, 1.13 • 0.06 rag. per cent. The presence of excessive tryptophan in phenylketonuria was confirmed by paper chromatography, using two solvent systems. L-tryptophan was administered intravenously
more, Md. To be published in full elsewhere. 20. Carbohydrate Tolerance in Dwarfism with
Hypoglycemia. Effects of Human Growth Hormone, ACTH, and Triiodothyronine.
21.
22.
23.
24.
25.
26.
27.
28.
Orville C. Green and Matthew Steiner, Chicago, I11. Respiratory Distress Syndrome and the High Risk Patient. Stanley M. Graven* and Harold R. Mesenhimer,* Lackland AFB, Texas, Madison, Wis., and Baltimore, Md. To be published in full elsewhere. Cardiovascular Findings in Children with Sickle Cell Anemia. Manuel Ng,* Jerome Liebman,* Joseph Anslovar,* and Samuel Gross, Cleveland, Ohio. Factors Controlling Pulmonary Vascular Re. sistance in Fetal Lambs. R. M. Lauer, J. A. Evans,* H. Aoki,* and C. F. Kittle, Kansas City, Kan. To be published in full elsewhere. Urine Cytology in Children Vaccinated with Oral Poliovirus Vaccine. Audrey F. Hart* and James D. Cherry, Madison, Wis. To be published in full elsewhere. The Development of Malignant Reticuloendotheliosis in the Coarse of WiskottAldrich Syndrome. R. W. ten Bensel,* E. M. Stadlen,* and W. Krivit, Minneapolis, Minn. Human Cytomegalovirus: Complement Fixation Studies. John C. Herweg and Helen K. Thornton,* St. Louis, Mo. To be published in full elsewhere. Erythrocyte Ghicose.6-Phosphate Dehydrog. chase from Deficient Human Subjects--Evidence for 4 Types. P. V. C. Pinto,* W. A. Newton, Jr., and K. E. Richardson, Columbus, Ohio. To be published in full elsewhere. A New Syndrome Associating Skeletal Deformities and Blood Cell Abnormalities. Peter Dignan~ and Alvin M. Mauer, Cincinnati, Ohio.
1. The metabolism o[ galactose in galactosemla T. J. Egan, W. W. Wells, H. J. Wells, and T. A. Pittman, Pittsburgh, Pa. Utilizing the technique of gas-liquid chromatography, urine specimens from 3 newly discovered galactosemic patients were examined and found to contain unusual amounts of two nonreducing sugars identified as sucrose and galactitol. Serum obtained in one case prior to dietary therapy demonstrated peaks identified as galactose (50 rag. per cent), glucose (45 mg. per cent), and galactito1 (8 mg. per cent). Following dietary therapy, galactose rapidly disappeared from the serum and
October 1965
urine, but galactitol continued to be excreted for several days in diminishing concentration. A 17year-old galactosemic male, who had not restricted his diet for several years, was studied. Urine was collected in 12 hour aliquots and analyzed for galactose and galactitol; in daytime collection there were 149 mg. galactose and 242 mg. of galactitol. The overnight specimen contained no galactose and 179 mg. of galactitol. The serum glucose level after a 12 hour fast was 104 rag. per cent; there were no detectable amounts of galacrose or galactltol. Examination of fresh frozen brain tissue and brain tissue extract of 2 presumptive galactosemic patients revealed a large accumulation of galactitol. The fresh frozen galactosemic brain was calculated to have 12.9 #M of galactitol per gram of tissue. Analysis of fresh frozen brain from a control patient revealed the absence of detectable amounts of galaetitol. The presence of aeyclie polyols in mammalian tissue has been considered a rare finding confined to specialized tissue such as the lens of the galactose-fed rat. The finding of galactitol in the urine of galaetosemic patients ingesting lactose or galacrose and the large amounts of galactitol found in the brains of 2 presumptive galactosemic patients suggest a new possibility for study as the "toxic agent" in galactosemia. DISCUSSION D~. WILLIAM KRIVIT, Minneapolis. Were liver transferase levels done? Have you put galactitol into red cells to see if it interferes with the glycolytic cycle? Is the half life of such red cells normal ? DR. EOAN. We did not do transferase enzyme studies in the liver of these patients. In answer to your second question, we are performing such studies at present. DR. JoHN M. OPITZ, Madison. Did you look for galactitol in proved heterozygotes? DR. EOAN. No.
2. The nature o[ the disturbance o[ tryptophan metabolism in phenylktonuria Henry L. Nadler, Julian L. Berman, and David Yi-Yung Hsia, Chicago, Ill. This paper describes studies designed to determine the nature of the disturbance of tryptophan metabolism in phenylketonuria. Fasting serum tryptophan was determined by the method of Duggan and Udenfriend (J. Biol. Chem. 293: 313, 1956). The mean standard deviation for 15 controls was 1.00 -+ 0.13 rag. per cent; for 15 untreated phenylketonurics, 5.97 -+ 0.63 mg. per cent; and for 4 treated phenylketonurics, 1.13 • 0.06 rag. per cent. The presence of excessive tryptophan in phenylketonuria was confirmed by paper chromatography, using two solvent systems. L-tryptophan was administered intravenously