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Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency.

作者信息

Bührdel P, Böhme H J, Didt L

机构信息

Children's Hospital, Leipzig, German Democratic Republic.

出版信息

Eur J Pediatr. 1990 May;149(8):574-6. doi: 10.1007/BF01957696.

DOI:10.1007/BF01957696
PMID:2347355
Abstract

Three boys and one girl suffering from inherited fructose-1,6-diphosphatase (FDPase) deficiency are reported. All four patients had less than 25% residual hepatic FDPase activity. While in two out of three patients the enzyme deficiency was also expressed in leucocytes, one patient had a normal enzyme activity. Remarkably, three patients had pronounced neonatal hyperbilirubinaemia requiring exchange transfusion.

摘要

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本文引用的文献

1
Detection of heterozygotes for fructose 1,6-diphosphatase deficiency by measuring fructose 1,6-diphosphatase activity in their cultured peripheral lymphocytes.通过检测培养的外周血淋巴细胞中果糖1,6 -二磷酸酶的活性来检测果糖1,6 -二磷酸酶缺乏症的杂合子。
Clin Chim Acta. 1984 Aug 15;141(1):27-32. doi: 10.1016/0009-8981(84)90163-3.
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Deficient activity of dephosphophosphorylase kinase and accumulation of glycogen in the liver.脱磷酸磷酸化酶激酶活性不足与肝脏中糖原积累
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3
Metabolic and biochemical studies in fructose 1,6-diphosphatase deficiency.
果糖-1,6-二磷酸酶缺乏症：一种可治疗的神经代谢障碍。
BMJ Case Rep. 2014 Sep 22;2014:bcr2013201553. doi: 10.1136/bcr-2013-201553.
4
Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency.阿拉伯果糖-1,6-二磷酸酶缺乏症患者中新型 FBP1 基因突变。
Eur J Pediatr. 2009 Dec;168(12):1467-71. doi: 10.1007/s00431-009-0953-9. Epub 2009 Mar 4.
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Fructose 1,6 diphosphatase deficiency in a Turkish infant.
Eur J Pediatr. 2003 Oct;162(10):719-20. doi: 10.1007/s00431-003-1234-7. Epub 2003 Jul 25.
6
Diagnosis of fructose-1,6-bisphosphatase deficiency using cultured lymphocyte fraction: a secure and noninvasive alternative to liver biopsy.利用培养淋巴细胞组分诊断果糖-1,6-二磷酸酶缺乏症：一种安全且非侵入性的肝活检替代方法。
J Inherit Metab Dis. 2002 Feb;25(1):41-6. doi: 10.1023/a:1015129616599.
7
Novel mutations in patients with fructose-1,6-bisphosphatase deficiency.1,6-二磷酸果糖酶缺乏症患者中的新突变
J Inherit Metab Dis. 1999 Apr;22(2):132-8. doi: 10.1023/a:1005489617843.
8
Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.日本果糖-1,6-二磷酸酶缺乏症患者基因突变的鉴定。
Am J Hum Genet. 1997 Oct;61(4):852-61. doi: 10.1086/514875.
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Disorders of gluconeogenesis.糖异生紊乱。
J Inherit Metab Dis. 1996;19(4):470-7. doi: 10.1007/BF01799108.
10
Diagnosis of fructose-1,6-bisphosphatase deficiency using leukocytes: normal leukocyte enzyme activity in three female patients.利用白细胞诊断果糖-1,6-二磷酸酶缺乏症：三名女性患者白细胞酶活性正常
Clin Investig. 1993 Feb;71(2):115-8. doi: 10.1007/BF00179991.
1,6-二磷酸果糖酶缺乏症的代谢与生化研究
J Pediatr. 1973 Apr;82(4):650-7. doi: 10.1016/s0022-3476(73)80591-8.
4
Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity.与肝果糖-1,6-二磷酸酶活性缺乏相关的空腹低血糖和代谢性酸中毒。
Lancet. 1970 Jul 4;2(7662):13-6. doi: 10.1016/s0140-6736(70)92474-8.
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Fructose-1,6-diphosphatase deficiency: diagnosis using leukocytes and detection of heterozygotes with radiochemical and spectrophotometric methods.
J Inherit Metab Dis. 1985;8(4):174-7. doi: 10.1007/BF01805429.
6
A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding.一种利用蛋白质 - 染料结合原理对微克级蛋白质进行定量的快速灵敏方法。
Anal Biochem. 1976 May 7;72:248-54. doi: 10.1016/0003-2697(76)90527-3.
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Purification and characterization of alkaline phosphatase in cultured rat liver cells.
J Biochem. 1978 May;83(5):1285-92. doi: 10.1093/oxfordjournals.jbchem.a132035.