Classical galactosaemia in Chinese: A case report and review of disease incidence

Journal of Paediatrics and Child Health

Volumn 35, Issue 4, 1999, Pages 399-400

  Cheung, K L ^a   Tang, N L S ^a   Hsiao, K J ^b   Law, L K ^a   Wong, W ^a   Ng, P C ^a   Pang, C P ^a   Applegarth, D A ^c   Fok, T F ^a   Hjelm, N M ^a  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^c BC CHILDREN S HOSPITAL   (Canada)

Author keywords

Chinese; Galactosaemia; Galactose 1 phosphate uridyl transferase

Indexed keywords

GALACTOSE; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE;

ARTICLE; CASE REPORT; CHINESE; ENZYME ACTIVITY; ERYTHROCYTE; ETHNIC GROUP; GALACTOSEMIA; GENE MUTATION; HUMAN; HYPERAMMONEMIA; INCIDENCE; JAUNDICE; LETHARGY; MALE; NEWBORN; PARENT; PRIORITY JOURNAL; SIBLING;

AMMONIA; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; FEMALE; GALACTOSEMIAS; HUMANS; INCIDENCE; INFANT, NEWBORN; JAPAN; MALE; NEONATAL SCREENING; TAIWAN; UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;

EID: 0032817106     PISSN: 10344810     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1440-1754.1999.00373.x     Document Type: Article

References (14)

1. 1 Tada K, Tateda H, Arashima S et al. Follow-up study of a nation-wide neonatal metabolic screening program in Japan. Eur. J. Pediatr. 1984; 142: 204-7.
2. 2 Chen RG, Sun M, Ni YY et al. Neonatal hypothyroidism, phenylketonuria and galactosaemia screening in metropolitan Shanghai. Chin. Med. J. 1984; 97: 61-5.
3. 3 Beutler E. Baluda M. A simple spot screening test for galactosaemia. J. Lab. Clin. Med. 1966; 68: 137-41.
4. 4 Chen MS, Hsiao KJ. Determination of galactose-1-phosphate uridyl-transferase in human erythrocytes for diagnosis and heterozygote detection of galactosaemia. Proceeding 2nd Joint Annual Conference of Biomedical Science, Taipei. 1987; 95.
5. 5 Elsas LJ, Langley S, Steele E et al. Galactosaemia: A strategy to identify new biochemical phenotypes and molecular genotypes. Am. J. Hum. Genet. 1995; 56: 630-9.
6. 6 Gitzelmann R, Forster I, Willi UV. Hypergalactosaemia in a newborn: self-limiting intrahepatic portosystemic venous shunt. Eur. J. Pediatr. 1997; 156: 719-22.
7. 7 Gitzelmann R, Arbenz UV, Willi UV. Hypergalactosaemia and portosystemic encephalopathy due to persistence of ductus venosus Arantii. Eur. J. Pediatr. 1992; 151: 564-8.
8. 8 Elsas LJ, Langley S, Paulk EM, Hjelm LN, Dembure PP. A molecular approach to galactosaemia. Eur. J. Pediatr. 1995; 154 (Suppl. 2): S21-S27.
9. 9 Ashino J, Okano Y, Suyama I et al. Molecular characterization of galactosaemia (type 1) mutations in Japanese. Hum. Mutat. 1995; 6: 36-43.
10. 10 Fok TF, Lau SP, Hui CW. Neonatal jaundice: Its prevalence in Chinese babies and associating factors. Aust. Paediatr. J. 1986; 22: 215-9.
11. 11 Honey MM, Green A, Holton JB, Leonard JV. Galactosaemia; results of the British Pediatric Surveillance Unit Study, 1988-90. Arch. Dis. Child. 1993; 69: 339-41.
12. 12 Monk AM, Mitchell AJ, Milligan DW, Holton JB. Diagnosis of classical galactosaemia. Arch. Dis. Child. 1977; 52: 943-6.
13. 13 Hsiao KJ, Chen CH, Liu TT, Wu SJ, Plettner C, Clemens P. Screening of congenital hypothyroidism, phenylketonuria, galactosaemia, homocystinuria, and maple syrup urine disease in moderate to severe mentally retarded Chinese children. Taiwan I Hsueh Hui Tsa Chih 1989; 88: 18-22.
14. 14 Hsiao KJ, Wuu KD. Galactosaemia detected by neonatal screening in Taiwan. Taiwan I Hsueh Hui Tsa Chih 1986; 85: S112-3.