A novel mutation in the GLUT2 gene in a patient with Fanconi - Bickel syndrome detected by neonatal screening for galactosaemia

Journal of Inherited Metabolic Disease

Volumn 27, Issue 2, 2004, Pages 279-280

  Peduto, Antonella ^a   Spada, M ^a   Alluto, A ^a   La Dolcetta, M ^a   Ponzone, A ^a   Santer, R ^b  

^a REGINA MARGHERITA CHILDREN S HOSPITAL   (Italy)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BICARBONATE; GALACTOSE; GLUCOSE; GLUCOSE TRANSPORTER 2; PHOSPHATE;

ARTICLE; BLOOD ANALYSIS; BODY HEIGHT; BONE AGE; BONE RADIOGRAPHY; BREAST FEEDING; CASE REPORT; CLINICAL FEATURE; EXON; FANCONI RENOTUBULAR SYNDROME; GALACTOSEMIA; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GLUCOSE BLOOD LEVEL; GLUCOSURIA; GROWTH RETARDATION; HEPATOMEGALY; HOMOZYGOSITY; HUMAN; HYPOPHOSPHATEMIA; KIDNEY TUBULE ABSORPTION; KIDNEY TUBULE DISORDER; LABORATORY TEST; MALE; MOLECULAR GENETICS; NEWBORN; NEWBORN SCREENING; RICKETS;

FANCONI SYNDROME; GALACTOSEMIAS; GENE DELETION; GLUCOSE TRANSPORTER TYPE 2; HUMANS; INFANT, NEWBORN; MALE; MONOSACCHARIDE TRANSPORT PROTEINS; NEONATAL SCREENING;

EID: 2942616969     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000028841.00833.f4     Document Type: Article

References (3)

1. Aperia A, Bergqvist G, Linne T, Zetterstrom R (1981) Familial Fanconi syndrome with malabsorption and galactose intolerance, normal kinase and transferase activity: a report on two siblings. Acta Paediatr Scand 70: 527-533.
2. Brivet M, Moatti N, Corriat A, Lemonnier A, Odièvre M (1983) Defective galactose oxidation in a patient with glycogen storage disease and Fanconi syndrome. Pediatr Res 17: 157-161.
3. Santer R, Steinmann B, Schaub J (2002) Fanconi-Bickel syndrome - a congenital defect of facilitative glucose transport. Curr Mol Med 2: 213-227.