FRUCTOSEDIPHOSPHATASE DEFICIENCIES
\fɹˈʌktə͡ʊsdˌɪfəsfˌate͡ɪs dɪfˈɪʃənsɪz], \fɹˈʌktəʊsdˌɪfəsfˌateɪs dɪfˈɪʃənsɪz], \f_ɹ_ˈʌ_k_t_əʊ_s_d_ˌɪ_f_ə_s_f_ˌa_t_eɪ_s d_ɪ_f_ˈɪ_ʃ_ə_n_s_ɪ_z]\
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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
Word of the day
Quinones
- Hydrocarbon rings which contain two moieties position. They can be substituted in any position except at the ketone groups.