Fructose 1,6-bisphosphatase deficiency as a cause of recessive serious hypoglycaemia;Fruktose-1,6-biphosphatase-mangel som årsag til recidiverende alvorlig hypoglykæmi

Ugeskrift for Laeger

Volumn 168, Issue 46, 2006, Pages 4014-4015

  Prahl, Pernille ^a,b   Christensen, Ernst ^a   Hansen, Lars ^a   Mortensen, Henrik B ^a  

^a GLOSTRUP UNIVERSITY HOSPITAL   (Denmark)

^b NONE   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CYSTEINYLALANYLGLYCINE; FRUCTOSE BISPHOSPHATASE; GLUTAMINE; THREONYLALANYLGLYCINE; UNCLASSIFIED DRUG;

CONSANGUINITY; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; GENE MUTATION; GLUCONEOGENESIS; HOMOZYGOSITY; HUMAN; HYPOGLYCEMIA; MOROCCO; SHORT SURVEY; STOP CODON;

EID: 33751022213     PISSN: 00415782     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Short Survey

References (5)

1. Herzog B, Wendel U, Morris AAM et al. Novel mutations in patients with fructose-1,6-bisphosphatase deficiency, J Inher Metab Dis 1999;22:132-8.
2. Gitzelmann R. Enzymes of fructose and galactose metabolism; galactose-1-phosphate, in Curtius H-C, Roth M, red. Clinical Biochemistry: Principles and Methods. Berlin: Gruyter, 1974:1236-51.
3. Boesiger P, Buchli R, Meier D et al. Changes of liver metabolite concentrations in adults with disorders of fructose metabolism after intravenous fructose by 31P magnetic resonance spectroscopy. Pediatr Res 1994;36:436.
4. Pagliara AS, Karl IE, Keating JP et al. Hepatic fructose-1,6- diphosphatase deficiency. J Clin Invest 1972;51:2115.
5. Kikawa Y, Inuzuka M, Jin BY et al. Identification of a genetic mutation in a family with fructose-1,6-bisphosphatase deficiency. Biochem Biophys Res Com 1995;210:797-804.