Biomaterial Database

Fructose I,6 diphosphatase deficiency. 1979

M J Tarlow, and A D Patrick, and D R Carlton, and M E Barton

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008297	Male		Males
D002239	Carbohydrate Metabolism, Inborn Errors	Dysfunctions of CARBOHYDRATE METABOLISM resulting from inborn genetic mutations that are inherited or acquired in utero.	Carbohydrate Metabolism, Inborn Error
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D006008	Glycogen Storage Disease	A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.	Glycogenosis,Disease, Glycogen Storage,Diseases, Glycogen Storage,Glycogen Storage Diseases,Glycogenoses,Storage Disease, Glycogen,Storage Diseases, Glycogen
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