Fructose-1,6-Diphosphatase Deficiency

Fructose

Fructose-Bisphosphatase

Phosphofructokinase-1

Fructosephosphates

Pyrophosphatases

Thiamine Pyrophosphatase

Fructose bisphosphatase deficiency

FBP1

Barbara Illingworth Brown

List of MeSH codes (C18)

List of MeSH codes (C16)

List of causes of hypoglycemia

Fructose 1,6-bisphosphatase

Index of molecular biology articles

Peptidoglycan

Hepatic6

• Deficiency of hepatic FDPase was first confirmed in 1970 by Baker and Winegrad. (medscape.com)
• Fatal hepatic or renal injury following ingestion of fructose has been reported in these patients. (medscape.com)
• Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity. (medscape.com)
• De Pra M, Laudanna E. [Baker-Winegrad disease (hepatomegaly, hypoglycemia during fasting, hyperlactacidemic metabolic acidosis, hepatic fructose-1-6-diphosphatase deficiency). (medscape.com)
• Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. (sdsu.edu)
• Prolonged fructose ingestion in infants leads ultimately to hepatic failure and death. (ouhsc.edu)

Metabolism8

• Changes of liver metabolite concentrations in adults with disorders of fructose metabolism after intravenous fructose by 31P magnetic resonance spectroscopy. (medscape.com)
• There is no problem with the metabolism of glucose or galactose, but fructose and glycerol cannot be used by the liver to maintain blood glucose levels. (wikipedia.org)
• Fructose Metabolism, Inborn Errors" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (sdsu.edu)
• This graph shows the total number of publications written about "Fructose Metabolism, Inborn Errors" by people in this website by year, and whether "Fructose Metabolism, Inborn Errors" was a major or minor topic of these publications. (sdsu.edu)
• Below are the most recent publications written about "Fructose Metabolism, Inborn Errors" by people in Profiles. (sdsu.edu)
• Untangling the Spirals of Metabolic Disease: Primary Diagnoses and Secondary Effects: Implications for Treatment David A. H. Whiteman MD 1909 Archibald Garrod In his paper, Inborn Errors of Metabolism, the disease Alkaptonuria (Ochronosis: Homogentisic Acid Oxidase Deficiency) is described as being caused by a gene. (abcdocz.com)
• An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 2.1.2.13) activity, resulting in accumulation of fructose-1-phosphate. (ouhsc.edu)
• 2-Hydroxybutyric acid generally appears at high concentrations in situations related to deficient energy metabolism (e.g. birth asphyxia) and also in inherited metabolic diseases affecting the central nervous system during neonatal development, such as "cerebral" lactic acidosis, glutaric aciduria type II, dihydrolipoyl dehydrogenase (E3) deficiency, and propionic acidemia. (pathbank.org)

Enzyme12

• Fructose 1,6-diphosphatase (FDPase) (also termed fructose 1,6-bisphosphatase) is a focal enzyme in gluconeogenesis via its conversion of fructose 1,6-diphosphate (FDP) to fructose 6-phosphate (F-6-P), which permits endogenous glucose production from gluconeogenic amino acids (eg, alanine and glycine), glycerol, or lactate. (medscape.com)
• Asberg C, Hjalmarson O, Alm J, Martinsson T, Waldenström J, Hellerud C. Fructose 1,6-bisphosphatase deficiency: enzyme and mutation analysis performed on calcitriol-stimulated monocytes with a note on long-term prognosis. (medscape.com)
• Fructose-1,6-bisphosphatase deficiency: severe phenotype with normal leukocyte enzyme activity. (medscape.com)
• Although premature infants have partial lactase deficiency because of intestinal immaturity, enzyme expression can be induced by lactose ingestion. (medscape.com)
• To treat people with a deficiency of this enzyme, they must avoid needing gluconeogenesis to make glucose. (wikipedia.org)
• Aldolase is an enzyme responsible for breaking down glucose products into energy, specifically converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate (DHAP) and glyceraldehydes 3-phosphate. (medscape.com)
• Aldolase is a cytoplasmic enzyme responsible for converting sugar into energy, specifically splitting aldol, fructose 1,6-bisphosphate, into the triose phosphates dihydroxyacetone phosphate (DHAP) and glyceraldehydes 3-phosphate (a reversible reaction). (medscape.com)
• An enzyme that catalyzes the conversion of D-fructose 1,6-bisphosphate and water to D-fructose 6-phosphate and orthophosphate. (bvsalud.org)
• The enzyme, carnosinase, splits anserine into b-alanine and 1-MHis. (pathbank.org)
• High levels of 1-MHis tend to inhibit the enzyme carnosinase and increase anserine levels. (pathbank.org)
• It cannot travel down many metabolic pathways and must be interconverted by the enzyme phosphoglucomutase in order to become glucose 6-phosphate. (ecmdb.ca)
• In glycogenesis, free glucose 1-phosphate can also react with UTP to form UDP-glucose, by using the enzyme UDP-glucose pyrophosphorylase. (ecmdb.ca)

Gluconeogenesis6

• FDPase catalyzes the conversion of FDP to F-6-P, which is a central step in gluconeogenesis. (medscape.com)
• When challenged with D-fructose, patients lacking FDPase accumulate intrahepatocellular FDP, which inhibits gluconeogenesis and, if intracellular phosphate stores are depleted, inhibits glycogenolysis. (medscape.com)
• MB06322 (CS-917): A potent and selective inhibitor of fructose 1,6-bisphosphatase for controlling gluconeogenesis in type 2 diabetes. (medscape.com)
• In fructose bisphosphatase deficiency, there is not enough fructose bisphosphatase for gluconeogenesis to occur correctly. (wikipedia.org)
• In gluconeogenesis, aldolase catalyzes the reduction of phosphoenolpyruvate to fructose 1,6-bisphosphate. (medscape.com)
• The accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose. (ouhsc.edu)

Autosomal recessive3

• Congenital lactase deficiency is an extremely rare autosomal recessive disorder associated with a complete absence of lactase expression. (medscape.com)
• Childhood-onset and adult-onset lactase deficiency are extremely common and are inherited in an autosomal recessive manner. (medscape.com)
• D-Fructose + D-Glucose Classical Galactosemia on Diet Autosomal Recessive Inheritance Galactosemia Variants Gal-1-P-UDT GalKinase Epimerase 9p13 - p21 17q21-q22 1p32 - pter Duarte Los Angeles Indian Rennes Philadelphia Negro Chicago A 2-day-old female infant is refusing to feed and has become increasingly lethargic and hypotonic over the past 2 hours. (abcdocz.com)

Ingestion of fructose2

• Patients develop severe hypoglycemia with metabolic acidosis upon ingestion of fructose. (medscape.com)
• Patients with FDPase deficiency typically present in the newborn period with symptoms or signs related to hypoglycemia and metabolic acidosis following ingestion of fructose. (medscape.com)

Glucose-6-phospha1

• The conversion of glucose-6-phosphate to fructose-6-phosphate is an example of which of the following reactions? (dentaldevotee.com)

Metabolic1

• 1, 3-Diaminopropane is involved in the arginine/proline metabolic pathways and the beta-alanine metabolic pathway. (pathbank.org)

Sucrose2

• They should avoid fructose containing foods (as well as sucrose which breaks down to fructose). (wikipedia.org)
• Patients develop a strong distaste for sweet food, and avoid a chronic course of the disease by remaining on a fructose- and sucrose-free diet. (ouhsc.edu)

Bisphosphatase6

• Kaur R, Dahiya L, Kumar M. Fructose-1,6-bisphosphatase inhibitors: A new valid approach for management of type 2 diabetes mellitus. (medscape.com)
• 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. (medscape.com)
• Herzog B, Morris AA, Saunders C, Eschrich K. Mutation spectrum in patients with fructose-1,6-bisphosphatase deficiency. (medscape.com)
• Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency. (medscape.com)
• Diagnosis of fructose-1,6-bisphosphatase deficiency using cultured lymphocyte fraction: a secure and noninvasive alternative to liver biopsy. (medscape.com)
• Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency. (medscape.com)

Glycolysis1

• In glycolysis, aldolase catalyzes fructose 1,6-bisphosphate to phosphoenolpyruvate through an oxidative reaction. (medscape.com)

Hereditary1

• Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase. (medscape.com)

Glycerol1

• If fructose or glycerol are given, there will be a buildup of phosphorylated three-carbon sugars. (wikipedia.org)

Glyceroluria1

• Beatty ME, Zhang YH, McCabe ER, Steiner RD. Fructose-1,6-diphosphatase deficiency and glyceroluria: one possible etiology for GIS. (medscape.com)

76621

• 2(7662):13-6. (medscape.com)

Severe1

• MCAD Deficiency A Child with Multiple Problems The Pregnancy Complicated by abdominal pain, severe nausea and vomiting, "black out spells" Emergency C-section because of maternal hemorrhage (unknown cause) A Child with Multiple Problems The Child Multiple hospital admissions for vomiting and dehydration in first year of life Nissen fundoplication at 18 months of age. (abcdocz.com)

Gene1

• Periplasmic acid glucose-1-phosphatase (G-1-Pase) encoded by gene Agp is necessary for the growth of Escherichia coli in a minimal medium containing glucose-1-phosphate (G-1-P) as the sole source of carbon. (ecmdb.ca)

Deficient1

• Conversely, genetic variants with deficient carnosinase activity in plasma show increased 1-MHis excretions when they consume a high meat diet. (pathbank.org)

Lactase3

• Milk intolerance is more frequently due to milk-protein allergy than primary lactase deficiency. (medscape.com)
• Acquired lactase deficiency, which is a transient phenomenon by definition, is due to damage of the intestinal mucosa by an infectious, allergic, or inflammatory process and resolves once the disease process is corrected and healing of the intestinal mucosa restores the brush border enzymes. (medscape.com)
• Symptomatic individuals represent only about 50% of lactase deficiency cases. (medscape.com)

Oxidative1

• Vitamin E deficiency can lead to 1-methylhistidinuria from increased oxidative effects in skeletal muscle. (pathbank.org)

Clinical2

• [ 2 ] They reported the dramatic clinical picture of acidosis in response to D-fructose challenge. (medscape.com)
• Buhrdel P, Bohme HJ, Didt L. Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency. (medscape.com)

Disorder1

• No improvement Hospitalization at 2 1/2 years for feeding disorder Episodes of weakness, shaking, decreased activity. (abcdocz.com)

Reaction2

• the dark-reactions stage is also called the carbon-assimilation reaction [ 1 ] . (encyclopedia.pub)
• Glucose 1-phosphate is the direct product of the reaction in which glycogen phosphorylase cleaves off a molecule of glucose from a greater glycogen structure. (ecmdb.ca)

Method1

• Rapid, simplified and sensitive method for screening fructose-1,6- diphosphatase deficiency by analyzing urinary metabolites in urease/direct preparations and gas chromatography-mass spectrometry in the selected-ion monitoring mode. (medscape.com)

People1

• However, symptoms of lactose intolerance rarely develop in people younger than 6 years. (medscape.com)

Response1

• It is on the Golgi codon and pumps the response of s-1 into the Golgi index. (evakoch.com)