BACKGROUNDβ-ketothiolase deficiency(β-KTD)is an inherited disease,and insufficient attention has been paid to imageology due to its lower morbidity.Therefore,few lesions outside the basal ganglia have been found bef...BACKGROUNDβ-ketothiolase deficiency(β-KTD)is an inherited disease,and insufficient attention has been paid to imageology due to its lower morbidity.Therefore,few lesions outside the basal ganglia have been found before,and the persistent pathological changes have rarely been reported.CASE SUMMARY A 10-mo-old Chinese female patient with a free previous medical history but with poor physical and athletic development had received the haemophilus influenzae vaccine and then developed a low fever 2 d prior.She was initially diagnosed with severe brain injury,central respiratory failure,metabolic acidosis complicated with respiratory alkalosis,hyper-IgE,etc.With further examination,a definite diagnosis ofβ-KTD was made.Symptomatic treatment was adopted.Ten days later,the dyspnea was improved evidently and the ventilator was removed,but there were still obvious abnormalities on magnetic resonance imaging(MRI).The lesions mainly invaded the corpus striatum but were not limited to the basal ganglia.Then,the patient’s disease improved and discharged approximately 1 mo later,and the abnormal lesions on MRI had partially improved.However,for about 1 year,the residual irreversible lesions were observed on MRI,the mental and physical development of the patient was obviously regressive,and extra rehabilitation training was needed.CONCLUSION The case highlights the critical importance of one view that the range of lesions in some patients may be more extensive than previously thought in someβ-KTD patients.In addition to biochemical tests,genetic tests and magnetic resonance imaging are not only conducive to quickly diagnosingβ-KTD but also to partially evaluating the short-and long-term outcomes.Moreover,more attention should be paid to the two mutations(c.478 C>G;c.951 C>T)that may be associated with severeβ-KTD.展开更多
The gene of the first key enzyme of poly-β-hydroxybutyrate synthesis, 3-ketothiolase, has been amplified and cloned from chromosomal DNA of Alcaligenes eutrophus H16 by PCR. DNA sequencing results show that phbA clon...The gene of the first key enzyme of poly-β-hydroxybutyrate synthesis, 3-ketothiolase, has been amplified and cloned from chromosomal DNA of Alcaligenes eutrophus H16 by PCR. DNA sequencing results show that phbA cloned in pBluescriptSK^+ has an identical sequence with that reported previously except for one base pair. The plant constitutive expression vector has been constructed and tobacco has been transformed in order to examine the phbA gene function and the efficiency of ctp gene product. SDS-polyacrylamide gel electrophoresis result shows that the ctp gene product could direct foreign protein into plastid efficiently and phbA gene could be translated into corresponding protein with correct size. The enzyme activity analysis of 3-ketothiolase shows that the enzyme could catalyze acetyl-CoA to form acetoacetylCoA.展开更多
文摘BACKGROUNDβ-ketothiolase deficiency(β-KTD)is an inherited disease,and insufficient attention has been paid to imageology due to its lower morbidity.Therefore,few lesions outside the basal ganglia have been found before,and the persistent pathological changes have rarely been reported.CASE SUMMARY A 10-mo-old Chinese female patient with a free previous medical history but with poor physical and athletic development had received the haemophilus influenzae vaccine and then developed a low fever 2 d prior.She was initially diagnosed with severe brain injury,central respiratory failure,metabolic acidosis complicated with respiratory alkalosis,hyper-IgE,etc.With further examination,a definite diagnosis ofβ-KTD was made.Symptomatic treatment was adopted.Ten days later,the dyspnea was improved evidently and the ventilator was removed,but there were still obvious abnormalities on magnetic resonance imaging(MRI).The lesions mainly invaded the corpus striatum but were not limited to the basal ganglia.Then,the patient’s disease improved and discharged approximately 1 mo later,and the abnormal lesions on MRI had partially improved.However,for about 1 year,the residual irreversible lesions were observed on MRI,the mental and physical development of the patient was obviously regressive,and extra rehabilitation training was needed.CONCLUSION The case highlights the critical importance of one view that the range of lesions in some patients may be more extensive than previously thought in someβ-KTD patients.In addition to biochemical tests,genetic tests and magnetic resonance imaging are not only conducive to quickly diagnosingβ-KTD but also to partially evaluating the short-and long-term outcomes.Moreover,more attention should be paid to the two mutations(c.478 C>G;c.951 C>T)that may be associated with severeβ-KTD.
文摘The gene of the first key enzyme of poly-β-hydroxybutyrate synthesis, 3-ketothiolase, has been amplified and cloned from chromosomal DNA of Alcaligenes eutrophus H16 by PCR. DNA sequencing results show that phbA cloned in pBluescriptSK^+ has an identical sequence with that reported previously except for one base pair. The plant constitutive expression vector has been constructed and tobacco has been transformed in order to examine the phbA gene function and the efficiency of ctp gene product. SDS-polyacrylamide gel electrophoresis result shows that the ctp gene product could direct foreign protein into plastid efficiently and phbA gene could be translated into corresponding protein with correct size. The enzyme activity analysis of 3-ketothiolase shows that the enzyme could catalyze acetyl-CoA to form acetoacetylCoA.
