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.

DUI

D015319 MeSH Browser

CUI

M0023587

Previous indexing

Hexosediphosphatase/deficiency (1970-1988)

History note

91(89); was see under FRUCTOSE METABOLISM, INBORN ERRORS 1989-90

Public note

91; was see under FRUCTOSE METABOLISM, INBORN ERRORS 1989-90