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.

Descriptor ID	D015319
MeSH Number(s)	C16.320.565.202.251.221 C18.452.648.202.251.221
Concept/Terms	Fructose-1,6-Diphosphatase Deficiency Fructose-1,6-Diphosphatase Deficiency Deficiencies, Fructose-1,6-Diphosphatase Deficiency, Fructose-1,6-Diphosphatase Fructose-1,6-Diphosphatase Deficiencies Fructosediphosphatase Deficiency Deficiencies, Fructosediphosphatase Deficiency, Fructosediphosphatase Fructosediphosphatase Deficiencies Fructose-Biphosphatase Deficiency Deficiencies, Fructose-Biphosphatase Deficiency, Fructose-Biphosphatase Fructose Biphosphatase Deficiency Fructose-Biphosphatase Deficiencies Fructose-1,6-Bisphosphatase Deficiency Deficiencies, Fructose-1,6-Bisphosphatase Deficiency, Fructose-1,6-Bisphosphatase Fructose 1,6 Bisphosphatase Deficiency Fructose-1,6-Bisphosphatase Deficiencies Fructose 1,6 Diphosphatase Deficiency Deficiency, Hexosediphosphatase Deficiency, Hexosediphosphatase Deficiencies, Hexosediphosphatase Hexosediphosphatase Deficiencies Hexosediphosphatase Deficiency

Below are MeSH descriptors whose meaning is more general than "Fructose-1,6-Diphosphatase Deficiency".

Below are MeSH descriptors whose meaning is related to "Fructose-1,6-Diphosphatase Deficiency".

Below are MeSH descriptors whose meaning is more specific than "Fructose-1,6-Diphosphatase Deficiency".