DEFICIENCIES, FRUCTOSE 1,6 BISPHOSPHATASE
\dɪfˈɪʃənsɪz], \dɪfˈɪʃənsɪz], \d_ɪ_f_ˈɪ_ʃ_ə_n_s_ɪ_z]\
Sort: Oldest first
-
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.
By DataStellar Co., Ltd
Word of the day
basidiomycota
- comprises fungi bearing the spores on basidium: Gasteromycetes (puffballs); Tiliomycetes (comprising orders Ustilaginales (smuts) and Uredinales (rusts)); Hymenomycetes (mushrooms; toadstools; agarics; bracket fungi); in some classification systems considered a division of kingdom comprises fungi bearing spores on a basidium; includes Gasteromycetes (puffballs) Tiliomycetes comprising the orders Ustilaginales (smuts) and Uredinales (rusts) Hymenomycetes (mushrooms, toadstools, agarics bracket fungi).
Nearby Words
- defibrinize
- defibrinized
- defibrol
- deficience
- deficiencies
- Deficiencies, Fructose 1,6 Bisphosphatase
- deficiencies, fructose 1,6 diphosphatase
- deficiencies, respiratory chain
- deficiency
- deficiency disease
- deficiency disease hexosaminidase a