Biomaterial Database

Fructose-1, 6 diphosphatase deficiency. 2. 1974

J Jaffe

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
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
D005260	Female		Females
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