DEFICIENCY, FRUCTOSE 1,6 DIPHOSPHATASE
\dɪfˈɪʃənsi], \dɪfˈɪʃənsi], \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
- deficiency diseases
- deficiency symptom
- deficiency, argininosuccinic acid synthetase, complete
- deficiency, argininosuccinic acid synthetase, partial
- deficiency, fructose 1,6 bisphosphatase
- Deficiency, Fructose 1,6 Diphosphatase
- deficiency, multiple carboxylase, late onset
- deficiency, multiple carboxylase, neonatal form
- deficiens agamous like proteins
- deficiens agamous related proteins
- deficiens protein