Hereditary Fructose Intolerance. Case Report with Molecular Study;Intolerancia Hereditaria a Frutose

Acta Medica Portuguesa

Volumn 11, Issue 12, 1998, Pages 1121-1125

  Lopes, Ana Isabel ^a   Almeida, Ana Gabriela ^a   Costa, Ana Elisa ^a   Costa, Artur ^a   Leite, Margarida ^a  

^a RESEARCH INSTITUTE FOR MEDICINES IMED ULISBOA   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; BIOPSY; CASE REPORT; DIET THERAPY; ENZYMOLOGY; GENETICS; HEREDITARY FRUCTOSE INTOLERANCE; HUMAN; INFANT; LIVER; MALE; METABOLISM; MUTATION; PATHOLOGY; REVIEW;

ALLELES; BIOPSY; FRUCTOSE INTOLERANCE; HUMANS; INFANT; LIVER; MALE; MUTATION;

EID: 0032242167     PISSN: None     EISSN: 16460758     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

1. GITZELMANN R, STEINMANN B, VAN DEN BERGHE G: Disorders of frutose metabolism. In: Scriver CR, Beaudet AL, Sly WS, Walle D, eds. The metabolic basis of inherited diseases, 6th ed. New York: McGraw Hill, 1989; 399-424
2. CROSS NCP, COX TM: Molecular analysis of aldolase B genes in the diagnosis of hereditary frutose intolerance in the United Kingdom. Quart J Med 1989; 73; 1015-20
3. CROSS NCP, DE FRANCIS R, SEBASTIO G, et al: Molecular analysis of aldolase B genes in hereditary frutose intolerance. Lancet 1990; 335: 306-9
4. BAERLOCHER K, GITZELMANN R, STEINMANN B, GITZELMANN-CUMARASAMY N: Hereditary frutose intolerance in early childhhod: a major diagnostic challenge: survey of 20 symtomatic cases. Helv Paediatr Acta 1978; 33: 465-87
5. ODIEVRE M, GERTIL C, GAUTIER M, ALAGILLE D: Hereditary frutose intolerance in childhood. Diagnosis, management and course in 55 patients. Am J Dis Child 1978; 132: 605-8
6. MOCK DM, PERMAN JA, THALER MM, MORRIS RC: Chronic frutose intoxication after infancy in children with hereditary frutose intolerance: a cause of growth retardation. N Engl J Med 1983; 309: 764-9
7. LABRUNE P, CHATELON S, HUGUET P, ODIEVRE M: Unusual cerebral manifestations in hereditary frutose intolerance. Arch Neurol 1990; 47; 1243-4
8. COX TM, CAMILLERI M, O'DONNELL MW, CHADWICK VS: Pseudo-dominant transmission of frutose intolerance in an adult and three offspring. Heterozygote detection by intestinal biopsy. N Engl J Med 1982; 307: 537-40
9. AARSKOG NK, GREID D: Aldolase B A149P mutation and hereditary frutose intolerance are not associated with sudden infant death syndrome. Acta Paediatr 1995; 84: 947-8