Biomaterial Database

Detection of heterozygotes for fructose-1,6-diphosphatase deficiency by measuring fructose-1,6-diphosphatase activity in monocytes cultured with calcitriol. 1993

Y Kikawa, and T Takano, and A Nakai, and Y Shigematsu, and M Sudo

Department of Pediatrics, Fukui Medical School, Japan.

The increase of fructose-1,6-diphosphatase activity during culture with calcitriol, which was reported in monocytes, was found not to occur in lymphocytes. Monocytes cultured with calcitriol were accordingly used as more reliable diagnosis of heterozygotes for fructose-1,6-diphosphatase deficiency, instead of mononuclear cells (lymphocyte-fraction-containing monocytes) cultured without calcitriol by a conventional method. Variation of fructose-1,6-diphosphatase values in leukocytes from nine healthy adults was smallest in monocytes cultured with calcitriol, among four different experimental conditions: monocytes cultured with or without calcitriol and mononuclear cells cultured with or without calcitriol. Both parents of two sisters with fructose-1,6-diphosphatase deficiency were successfully confirmed as carriers of fructose-1,6-diphosphatase deficiency by this method. However, confirmation by the conventional method using mononuclear cells cultured without calcitriol was possible only in the father, not in the mother. Thus, the new method using monocytes cultured with calcitriol seems more reliable for detecting heterozygotes for fructose-1,6-diphosphatase deficiency.

UI	MeSH Term	Description	Entries
D007700	Kinetics	The rate dynamics in chemical or physical systems.
D007963	Leukocytes, Mononuclear	Mature LYMPHOCYTES and MONOCYTES transported by the blood to the body's extravascular space. They are morphologically distinguishable from mature granulocytic leukocytes by their large, non-lobed nuclei and lack of coarse, heavily stained cytoplasmic granules.	Mononuclear Leukocyte,Mononuclear Leukocytes,PBMC Peripheral Blood Mononuclear Cells,Peripheral Blood Human Mononuclear Cells,Peripheral Blood Mononuclear Cell,Peripheral Blood Mononuclear Cells,Leukocyte, Mononuclear
D002117	Calcitriol	The physiologically active form of vitamin D. It is formed primarily in the kidney by enzymatic hydroxylation of 25-hydroxycholecalciferol (CALCIFEDIOL). Its production is stimulated by low blood calcium levels and parathyroid hormone. Calcitriol increases intestinal absorption of calcium and phosphorus, and in concert with parathyroid hormone increases bone resorption.	1 alpha,25-Dihydroxycholecalciferol,1 alpha,25-Dihydroxyvitamin D3,1, 25-(OH)2D3,1,25(OH)2D3,1,25-Dihydroxycholecalciferol,1,25-Dihydroxyvitamin D3,1 alpha, 25-dihydroxy-20-epi-Vitamin D3,1,25(OH)2-20epi-D3,1,25-dihydroxy-20-epi-Vitamin D3,20-epi-1alpha,25-dihydroxycholecaliferol,Bocatriol,Calcijex,Calcitriol KyraMed,Calcitriol-Nefro,Decostriol,MC-1288,MC1288,Osteotriol,Renatriol,Rocaltrol,Silkis,Sitriol,Soltriol,Tirocal,1 alpha,25 Dihydroxyvitamin D3,1,25 Dihydroxycholecalciferol,1,25 Dihydroxyvitamin D3,1,25 dihydroxy 20 epi Vitamin D3,Calcitriol Nefro,D3, 1 alpha,25-Dihydroxyvitamin,D3, 1,25-Dihydroxyvitamin,D3, 1,25-dihydroxy-20-epi-Vitamin,KyraMed, Calcitriol,MC 1288
D002478	Cells, Cultured	Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.	Cultured Cells,Cell, Cultured,Cultured Cell
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D005260	Female		Females
D006580	Genetic Carrier Screening	Identification of individuals who are heterozygous at a GENETIC LOCUS for a recessive PHENOTYPE.	Carriers, Genetic, Detection,Genetic Carriers, Detection,Heterozygote Detection,Carrier Detection, Genetic,Detection, Genetic Carrier,Genetic Carrier Detection,Heterozygote Screening,Carrier Screening, Genetic,Detection, Heterozygote,Screening, Genetic Carrier,Screening, Heterozygote,Screenings, Genetic Carrier
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015319	Fructose-1,6-Diphosphatase Deficiency	An autosomal recessive fructose metabolism disorder due to absent or deficient fructose-1,6-diphosphatase activity. Gluconeogenesis is impaired, resulting in accumulation of gluconeogenic precursors (e.g., amino acids, lactate, ketones) and manifested as hypoglycemia, ketosis, and lactic acidosis. Episodes in the newborn infant are often lethal. Later episodes are often brought on by fasting and febrile infections. As patients age through early childhood, tolerance to fasting improves and development becomes normal.	Fructose-1,6-Bisphosphatase Deficiency,Fructose-Biphosphatase Deficiency,Hexosediphosphatase Deficiency,Deficiency, Hexosediphosphatase,Fructose 1,6 Diphosphatase Deficiency,Fructosediphosphatase Deficiency,Deficiencies, Fructose-1,6-Bisphosphatase,Deficiencies, Fructose-1,6-Diphosphatase,Deficiencies, Fructose-Biphosphatase,Deficiencies, Fructosediphosphatase,Deficiencies, Hexosediphosphatase,Deficiency, Fructose-1,6-Bisphosphatase,Deficiency, Fructose-1,6-Diphosphatase,Deficiency, Fructose-Biphosphatase,Deficiency, Fructosediphosphatase,Fructose 1,6 Bisphosphatase Deficiency,Fructose Biphosphatase Deficiency,Fructose-1,6-Bisphosphatase Deficiencies,Fructose-1,6-Diphosphatase Deficiencies,Fructose-Biphosphatase Deficiencies,Fructosediphosphatase Deficiencies,Hexosediphosphatase Deficiencies