生物化学与分子生物学（南方医科大学）糖代谢2.pptVIP

Such cascades effect a large amplification of the initial signal; the figures in pink boxes are probably low estimates of the actual increase in number of molecules at each stage of the cascade. * 糖代谢途径中的先天异常还包括： 丙酮酸激酶、丙酮酸脱氢酶复合体、UDP－葡萄糖醛酸基转移酶、果糖激酶、1，6－二磷酸果糖激酶、1－磷酸果糖醛缩酶、半乳糖激酶等缺陷引起的疾病。 人类罕见三羧酸循环中的酶缺陷。 * 英文维基列出了共12型 多数属常染色体隐性遗传，发病因种族而异。根据欧洲资料，其发病率为1/（2万～2.5万）。糖原合成和分解代谢中所必需的各种酶至少有8种，由于这些酶缺陷所造成的临床疾病有12型，其中Ⅰ、Ⅲ、Ⅳ、Ⅵ、Ⅸ型以肝脏病变为主；Ⅱ、Ⅴ、Ⅶ型以肌肉组织受损为主。这类疾病有一个共同的生化特征，即是糖原贮存异常，绝大多数是糖原在肝脏、肌肉、肾脏等组织中贮积量增加。仅少数病种的糖原贮积量正常，而糖原的分子结构异常。 出生即可发病，成年之后，轻病者的患者会有所好转。以肝脏病为主的Ⅰ型最为常见。 患儿出生时就会有肝脏肿大的症状。新生儿肝肿大不明显，而不被注意。1岁左右逐渐见肝脏肿大，甚至占据整个腹腔。 低血糖：多于1岁以内出现，随着年龄增长，会出现明显低血糖症状，例如软弱呕吐、无力、出汗、惊厥和昏迷， 生长发育迟缓：反复发作的低血糖会影响患者的智力发育以及身体发育，表现为智能低下，患者肥胖体、个子矮小、皮肤暗淡，颜色多为淡黄色，肌肉发育差，较常见下肢无力的症状。 酮症酸中毒：是小儿死亡的主要原因。多数病人在发生意识障碍前数天有多尿、烦渴多饮和乏力，随后出现食欲减退、恶心、呕吐，常伴头痛、嗜睡、烦躁、呼吸深快，呼气中有烂苹果味（丙酮）是其典型发作时候的特点。随着病情进一步发展，出现严重失水，尿量减少，皮肤弹性差，眼球下陷，脉细速，血压下降。至晚期时各种反射迟钝甚至消失，嗜睡以至昏迷。 * 禁食一天，血糖正常，长期饥饿，血糖略有下降。 Gluconeogenesis occurs in all animals, plants, fungi, and microorganisms. The reactions are essentially the same in all tissues and all species. Usually produced only in hepatocytes, in fasting conditions other tissues such as the intestines, muscles, brain, and kidneys are able to produce glucose following activation of gluconeogenesis. Liver enzymes turn over (are synthesized and degraded) at five to ten times the rate of enzyme turnover in other tissues, such as muscle * * * 从PEP往上走，复习 * 2分子乳酸异生为葡萄糖需消耗6分子ATP. 如果是丙酮酸起，还另消耗两对H。 Formation of one molecule of glucose from pyruvate requires 4 ATP, 2 GTP, and 2 NADH; it is expensive. Animals cannot convert acetyl-CoA derived from fatty acids into glucose; plants and microorganisms can. * 不是必须从丙酮酸开始 * 糖异生障碍通常是致命性的。 低血糖hypoglycemia * * Much of what is written in present-day biochemistry textbooks about the metabolism of glycogen was discovered between about 1925 and 1950 by the remarkable husband and wife team of Carl F. Cori and Gerty T. Cori. Carl and Gerty Cori shared the Nobel Prize in Physiol