Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Fruktose-1,6-Bisphosphatase-Mangel

Der Fruktose-1,6-Bisphosphatase-Mangel ist eine autosomal rezessive Erkrankung, die durch Mutationen des FBP1-Gens hervorgerufen wird und durch Hypoglykämie und metabolische Azidose gekennzeichnet ist.

Gliederung

Lebensmittelunverträglichkeiten
Eosinophile Peroxidase-Mangel
Erwachsenentyp der Laktoseintoleranz
Fruktose Malabsorption
Fruktose-1,6-Bisphosphatase-Mangel
FBP1
Fruktoseintoleranz
Fruktosurie
Glucose-Galactose-Malabsorption
Histamin-Intoleranz
Lactasemangel
Lysinurische Proteinintoleranz
Sitosterolämia
Trehalasemangel

Referenzen:

1.

Odievre M et. al. (1975) [Fructose 1,6-diphosphatase deficiency in 2 sisters].

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2.

Moses SW et. al. (1991) Fructose-1,6-diphosphatase deficiency in Israel.

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3.

Bührdel P et. al. (1990) Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency.

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4.

Baker L et. al. (1970) Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity.

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5.

Sia CL et. al. (1969) Studies on the subunit structure of rabbit liver fructose diphosphatase.

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6.

Melancon SB et. al. (1972) Detection of fructose-6,-diphosphatase deficiency with use of white blood cells.

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7.

Baerlocher K et. al. (1971) Infantile lactic acidosis due to hereditary fructose 1,6-diphosphatase deficiency.

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8.

Pagliara AS et. al. (1972) Hepatic fructose-1,6-diphosphatase deficiency. A cause of lactic acidosis and hypoglycemia in infancy.

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9.

Greene HL et. al. (1972) "Ketotic hypoglycemia" due to hepatic fructose-1,6-diphosphatase deficiency: treatment with folic acid.

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10.

el-Maghrabi MR et. al. (1995) Human fructose-1,6-bisphosphatase gene (FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-bisphosphatase deficiency.

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11.

Kikawa Y et. al. (1995) Identification of a genetic mutation in a family with fructose-1,6- bisphosphatase deficiency.

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12.

Besley GT et. al. (1994) Fructose-1,6-bisphosphatase deficiency: severe phenotype with normal leukocyte enzyme activity.

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13.

Rothschild CB et. al. (1995) Fructose-1,6-bisphosphatase: genetic and physical mapping to human chromosome 9q22.3 and evaluation in non-insulin-dependent diabetes mellitus.

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14.

Kikawa Y et. al. (1997) Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.

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15.

Tillmann H et. al. (1998) Isolation and characterization of an allelic cDNA for human muscle fructose-1,6-bisphosphatase.

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16.

Berge KE et. al. (2000) Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters.

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17.

Lee MH et. al. (2001) Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption.

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18.

Lu K et. al. (2001) Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.

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19.

Repa JJ et. al. (2002) Regulation of ATP-binding cassette sterol transporters ABCG5 and ABCG8 by the liver X receptors alpha and beta.

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20.

Lu K et. al. (2002) Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8.

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21.

Matsuura T et. al. (2002) Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency.

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22.

Yu L et. al. (2002) Disruption of Abcg5 and Abcg8 in mice reveals their crucial role in biliary cholesterol secretion.

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23.

Sehayek E et. al. (2002) Loci on chromosomes 14 and 2, distinct from ABCG5/ABCG8, regulate plasma plant sterol levels in a C57BL/6J x CASA/Rk intercross.

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24.

None (2003) Role of ABC transporters in secretion of cholesterol from liver into bile.

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25.

Yang C et. al. (2004) Disruption of cholesterol homeostasis by plant sterols.

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26.

Rees DC et. al. (2005) Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia.

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27.

Mannucci L et. al. (2007) Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene.

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28.

Rios J et. al. (2010) Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia.

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29.

Li B et. al. (2014) Fructose-1,6-bisphosphatase opposes renal carcinoma progression.

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