FRUCTOSE 1,6 BISPHOSPHATASE DEFICIENCY
\fɹˈʌktə͡ʊz wˈɒn sˈɪks ba͡ɪsfˈɒsfɐtˌe͡ɪs dɪfˈɪʃənsi], \fɹˈʌktəʊz wˈɒn sˈɪks baɪsfˈɒsfɐtˌeɪs dɪfˈɪʃənsi], \f_ɹ_ˈʌ_k_t_əʊ_z w_ˈɒ_n s_ˈɪ_k_s b_aɪ_s_f_ˈɒ_s_f_ɐ_t_ˌeɪ_s d_ɪ_f_ˈɪ_ʃ_ə_n_s_i]\
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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
Nearby Words
- fructose
- fructose 1 phosphate aldolase
- fructose 1,6 biphosphatase
- fructose 1,6 bisphosphatase
- fructose 1,6 bisphosphatase deficiencies
- Fructose 1,6 Bisphosphatase Deficiency
- fructose 1,6 bisphosphate aldolase
- fructose 1,6 bisphosphate aldolase, class ii
- fructose 1,6 diphosphatase
- fructose 1,6 diphosphatase deficiencies
- fructose 1,6 diphosphatase deficiency