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磷酸果糖激酶缺乏症(Ⅶ型糖原累积病、Tarui病)

Authors
William J Craigen, MD, PhD
Basil T Darras, MD
Section Editor
Sihoun Hahn, MD, PhD
Deputy Editor
Elizabeth TePas, MD, MS
Translators
赵岩, 副主任医师

引言

糖原是葡萄糖的贮存形式，当机体需要葡萄糖时起缓冲储备作用。它是α-1，4糖苷键连接的长链聚合物，每4-10个残基由α-1,6糖苷键构成支链。糖原是在饮食碳水化合物负荷期形成的，在葡萄糖需求量较大或能获得的饮食较少时进行分解(图 1)。

对于编码参与糖原合成、分解或调节的几乎所有蛋白质的基因，发生突变时都可导致多种先天性糖原代谢病。可导致糖原异常储存的疾病被称为糖原累积病(glycogen storage disease, GSD)。这类疾病主要是根据发现相关酶缺乏症的年代编号来进行分类(表 1)。发病年龄可有所差异，从胎儿到成人期不等。

在肝脏和肌肉组织中所含糖原最丰富，其也是该疾病最常累及的部位。肝脏及肌肉中某一特定酶的生理意义决定疾病的临床表现。

●肝糖原的主要作用是存储葡萄糖，以便在空腹期间释放葡萄糖以供应不能大量合成葡萄糖的组织。累及肝脏的糖原代谢疾病主要表现为低血糖和肝肿大。 (参见“糖尿病患者和正常人对低血糖的生理应答”)

●糖原可为ATP合成提供底物，是高强度肌肉活动的主要能量来源。累及肌肉的糖原代谢障碍的主要表现为肌肉痉挛、运动不耐受和易疲劳，以及进行性肌无力。

      

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Literature review current through: 2017-06 . | This topic last updated: 2016-08-16.
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References
Top
  1. Ronquist G, Rudolphi O, Engström I, Waldenström A. Familial phosphofructokinase deficiency is associated with a disturbed calcium homeostasis in erythrocytes. J Intern Med 2001; 249:85.
  2. Howard TD, Akots G, Bowden DW. Physical and genetic mapping of the muscle phosphofructokinase gene (PFKM): reassignment to human chromosome 12q. Genomics 1996; 34:122.
  3. Van Keuren M, Drabkin H, Hart I, et al. Regional assignment of human liver-type 6-phosphofructokinase to chromosome 21q22.3 by using somatic cell hybrids and a monoclonal anti-L antibody. Hum Genet 1986; 74:34.
  4. Vora S, Miranda AF, Hernandez E, Francke U. Regional assignment of the human gene for platelet-type phosphofructokinase (PFKP) to chromosome 10p: novel use of polyspecific rodent antisera to localize human enzyme genes. Hum Genet 1983; 63:374.
  5. DiMauro S, Miranda AF, Sakoda S, et al. Metabolic myopathies. Am J Med Genet 1986; 25:635.
  6. Raben N, Sherman JB. Mutations in muscle phosphofructokinase gene. Hum Mutat 1995; 6:1.
  7. Nichols RC, Rudolphi O, Ek B, et al. Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions. Am J Hum Genet 1996; 59:59.
  8. Raben N, Sherman J, Miller F, et al. A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease). J Biol Chem 1993; 268:4963.
  9. Raben N, Sherman JB, Adams E, et al. Various classes of mutations in patients with phosphofructokinase deficiency (Tarui's disease). Muscle Nerve Suppl 1995; 3:S35.
  10. TARUI S, OKUNO G, IKURA Y, et al. PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS. Biochem Biophys Res Commun 1965; 19:517.
  11. Layzer RB, Rowland LP, Ranney HM. Muscle phosphofructokinase deficiency. Arch Neurol 1967; 17:512.
  12. Haller RG, Lewis SF. Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency. N Engl J Med 1991; 324:364.
  13. Haller RG, Vissing J. No spontaneous second wind in muscle phosphofructokinase deficiency. Neurology 2004; 62:82.
  14. Mineo I, Kono N, Hara N, et al. Myogenic hyperuricemia. A common pathophysiologic feature of glycogenosis types III, V, and VII. N Engl J Med 1987; 317:75.
  15. Mineo I, Tarui S. Myogenic hyperuricemia: what can we learn from metabolic myopathies? Muscle Nerve Suppl 1995; 3:S75.
  16. Danon MJ, Servidei S, DiMauro S, Vora S. Late-onset muscle phosphofructokinase deficiency. Neurology 1988; 38:956.
  17. Sivakumar K, Vasconcelos O, Goldfarb L, Dalakas MC. Late-onset muscle weakness in partial phosphofructokinase deficiency: a unique myopathy with vacuoles, abnormal mitochondria, and absence of the common exon 5/intron 5 junction point mutation. Neurology 1996; 46:1337.
  18. Malfatti E, Birouk N, Romero NB, et al. Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency. J Neurol Sci 2012; 316:173.
  19. Amit R, Bashan N, Abarbanel JM, et al. Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency. Muscle Nerve 1992; 15:455.
  20. Al-Hassnan ZN, Al Budhaim M, Al-Owain M, et al. Muscle phosphofructokinase deficiency with neonatal seizures and nonprogressive course. J Child Neurol 2007; 22:106.
  21. Musumeci O, Bruno C, Mongini T, et al. Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII). Neuromuscul Disord 2012; 22:325.
  22. Bonilla E, Schotland DL. Histochemical diagnosis of muscle phosphofructokinase deficiency. Arch Neurol 1970; 22:8.
  23. Hays AP, Hallett M, Delfs J, et al. Muscle phosphofructokinase deficiency: abnormal polysaccharide in a case of late-onset myopathy. Neurology 1981; 31:1077.
  24. Swoboda KJ, Specht L, Jones HR, et al. Infantile phosphofructokinase deficiency with arthrogryposis: clinical benefit of a ketogenic diet. J Pediatr 1997; 131:932.