First report of congenital or infantile cataract in deranged proteoglycan metabolism with released xylose

British Journal of Ophthalmology

Volumn 81, Issue 4, 1997, Pages 319-323

  Sulochana, K N ^a   Ramakrishnan, S ^a,b   Vasanthi, S B ^a   Madhavan, H N ^a   Arunagiri, K ^a   Punitham, R ^a  

^a MEDICAL RESEARCH FOUNDATION   (India)

^b VISION RESEARCH FOUNDATION   (India)

Author keywords

[No Author keywords available]

Indexed keywords

ALCIAN BLUE; BETA GLUCURONIDASE; CETRIMIDE; CHONDROITIN SULFATE; GLUCOSE; GLYCOSAMINOGLYCAN; HEPARAN; PROTEOGLYCAN; XYLOSE;

ARTICLE; BLOOD LEVEL; CHILD; CONGENITAL CATARACT; CONTROLLED STUDY; ELECTROPHORESIS; FEMALE; GLUCOSE URINE LEVEL; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INBORN ERROR OF METABOLISM; INFANT; ION EXCHANGE CHROMATOGRAPHY; LYMPHOCYTE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; URINALYSIS; URINE LEVEL;

EID: 0031002868     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.81.4.319     Document Type: Article

References (20)

1. Kalckar HM, Anderson EP, Isselbacher KJ. Galactosemia, a congenital defect in a nucleotide transferase. Biochem Biophys Acta 1956;20:262-6.
2. Gitzelman R. Hereditary galactokinase deficiency, a newly recognized cause of juvenile cataract. Pediatr Res 1967;1: 14-16.
3. Levy NS, Krill AE, Beutler E. Galactokinase deficiency and cataract. Am J Ophthalmol 1972;74:41-9.
4. Kinoshita JH. Cataracts in galactosemia. Invest Ophthalmol Vis Sci 1965;4:786-92.
5. Aguirre G, Stramm L, Haskin M, Jezyk P. Animal models of metabolic eye diseases. In: William AR, ed. Goldberg's genetic and metabolic eye disease. 2nd ed. USA, 1986:129-67.
6. Murphree AL. Cataracts in galactosemia. Invest Ophthalmol Vis Sci 1965;4:786-92.
7. Gowenlock AH, Murray JR, McLavchlan, DM. Specific methods for detection of amino acids and their derivatives. In: Varley H, Gowenlock AH, Bell M, eds. Varley's practical clinical biochemistry. 6th ed. London: William Heinemann, 1988:383-98.
8. Rajagopal G, Ramakrishnan S. Qualitative analysis of carbohydrates. In: Practical biochemistry for medical students. Orient Longman, 1983:1-3.
9. Varley H, Gowenlock AH, Bell M. Tests for glucose and other reducing substances in urine. General topics and commoner tests. In: Varley H, Gowenlock AH, Bell M, eds. Practical clinical biochemistry, Vol I 5th ed. London:William Heinemann, 1980:421-35.
10. Gold EW. A simple spectrophotometric method for estimating glycosaminoglycan concentrations. Anal Biochem 1979; 99:183-8.
11. Varley H, Gowenlock AH, Bell M. Screening procedures for inherited disorders. In: Varley H, Gowenlock AH, Bell M, eds. Practical clinical biochemistry. Vol 1. London: William Heinemann, 1990:523-4.
12. Rufini S, Ghebregzabher M, Castellucci G, Lato M. A new screening test for the diagnosis of mucopolysaccharidoses. Clin Chem Acta 1979;95:443-4.
13. Binder H. Separation of monosaccharides by HPLC comparison of ultraviolet and refractive index detection. J Chromatogr 1980;189:414-20.
14. Berger SL. Lymphocytes as resting cells. Methods in Enzymol 1979;58:486-94.
15. Kawai Y, Anno KL. Mucopolysaccharide-degrading enzymes from the liver of the squid, Ommastrepars sloanipacificus. Biochem Biophys Acta 1971;242:428-38.
16. Lowry OH, Rosebrough NJ, Farr AL, Randall RJ. Protein measurement with Folin phenol reagent. J Biol Chem 1951; 193:265-75.
17. Bonsnes RW, Taussky HH. Non-protein nitrogen. In: Varley H, Gowenlock AH, Bell M, eds. Practical clinical biochemistry. Vol 1, 5th ed. London: William Heinemann, 1980:484.
18. Prockop DJ, Sjoerdsma A. Significance of urinary hydroxy proline in man. J Clin Invest 1961;40:843-6.
19. Murray RK, Granner DK, Mayes PA, Rodwell VW. Glycoproteins and proteolglycans. In: Harper's biochemistry. 21st ed. California: Lange Medical Book, 1988:539-606.
20. Yeh LA, Rafford CE, Beyer TA, Hutson NJ. Effects of the aldose reductase inhibitor Sorbinil on the isolated cultured rat lens. Metabolism 1986;35:4-9.