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一名患有家族性间歇性乳酸酸中毒和丙酮酸脱氢酶缺乏症患者对碳水化合物的敏感性。

Sensitivity to carbohydrate in a patient with familial intermittent lactic acidosis and pyruvate dehydrogenase deficiency.

作者信息

Cederbaum S D, Blass J P, Minkoff N, Brown W J, Cotton M E, Harris S H

出版信息

Pediatr Res. 1976 Aug;10(8):713-20. doi: 10.1203/00006450-197608000-00002.

DOI:10.1203/00006450-197608000-00002
PMID:821033
Abstract

A 9-year old boy with severe mental and growth retardation and diffuse neurologic damage had minimal elevation of blood pyruvate (0.21 mM) and lactate (2.1 mM) on a normal diet but developed life-threatening lactic acidosis (pH 7.14; lactate 21.0 MM) on a diet containing 65% carbohydrate and 15% fat. Subsequently, blood pyruvate levels rose significantly higher than in 16 control subjects during a glucose tolerance test whereas the glucose levels were normal. Two sisters died with spontaneous lactic acidosis and an otherwise similar clinical course...

摘要

一名9岁男孩患有严重的智力和生长发育迟缓以及弥漫性神经损伤，正常饮食时血丙酮酸（0.21 mM）和乳酸（2.1 mM）仅有轻微升高，但在摄入含65%碳水化合物和15%脂肪的饮食时发生了危及生命的乳酸性酸中毒（pH 7.14；乳酸21.0 mM）。随后，在葡萄糖耐量试验期间，其血丙酮酸水平比16名对照受试者显著升高，而葡萄糖水平正常。两名姐妹死于自发性乳酸性酸中毒，且临床病程相似……

相似文献

1
Sensitivity to carbohydrate in a patient with familial intermittent lactic acidosis and pyruvate dehydrogenase deficiency.一名患有家族性间歇性乳酸酸中毒和丙酮酸脱氢酶缺乏症患者对碳水化合物的敏感性。
Pediatr Res. 1976 Aug;10(8):713-20. doi: 10.1203/00006450-197608000-00002.
2
Ketonic diet in the management of pyruvate dehydrogenase deficiency.生酮饮食在丙酮酸脱氢酶缺乏症治疗中的应用
Pediatrics. 1976 Nov;58(5):713-21.
3
Lactic acidosis in childhood.儿童乳酸酸中毒
Adv Pediatr. 1976;22:267-303.
4
[Pyruvate dehydrogenase deficiency in a child with persistent lactic acidosis].
J Clin Chem Clin Biochem. 1985 Jun;23(6):323-9.
5
Lactic acidosis in three sibs due to defects in both pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase complexes.三例同胞因丙酮酸脱氢酶和α-酮戊二酸脱氢酶复合物缺陷导致乳酸酸中毒。
Pediatrics. 1976 Oct;58(4):564-72.
6
Fatal lactic acidosis in a newborn attributable to a congenital defect of pyruvate dehydrogenase.新生儿因丙酮酸脱氢酶先天性缺陷导致的致命性乳酸性酸中毒
Pediatr Res. 1976 Jan;10(1):62-6. doi: 10.1203/00006450-197601000-00012.
7
The genetic heterogeneity of lactic acidosis: occurrence of recognizable inborn errors of metabolism in pediatric population with lactic acidosis.乳酸性酸中毒的遗传异质性：儿科乳酸性酸中毒人群中可识别的先天性代谢缺陷的发生情况。
Pediatr Res. 1980 Aug;14(8):956-62. doi: 10.1203/00006450-198008000-00013.
8
[Pyruvate-dehydrogenase deficiency. Lethal course of the disease during infancy (author's transl)].
Monatsschr Kinderheilkd (1902). 1978 Mar;126(3):140-7.
9
Pyruvate dehydrogenase deficiency in 35 patients.
Monogr Hum Genet. 1978;9:12-5. doi: 10.1159/000401603.
10
Abnormal pyruvate and alpha-ketoglutarate dehydrogenase complexes in a patient with lactic acidemia.一名乳酸血症患者体内丙酮酸和α-酮戊二酸脱氢酶复合物异常。
Pediatr Res. 1979 Aug;13(8):928-31. doi: 10.1203/00006450-197908000-00011.

引用本文的文献

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Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options.伴有共济失调的先天性代谢缺陷：当前及未来的治疗选择
Cells. 2023 Sep 19;12(18):2314. doi: 10.3390/cells12182314.
2
Comparison Between Dichloroacetate and Phenylbutyrate Treatment for Pyruvate Dehydrogenase Deficiency.二氯乙酸盐与苯丁酸钠盐治疗丙酮酸脱氢酶缺乏症的比较。
Br J Biomed Sci. 2022 May 19;79:10382. doi: 10.3389/bjbs.2022.10382. eCollection 2022.
3
Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes.丙酮酸脱氢酶复合物缺乏症的生酮饮食：短期和长期结果
J Inherit Metab Dis. 2017 Mar;40(2):237-245. doi: 10.1007/s10545-016-0011-5. Epub 2017 Jan 18.
4
Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis.苯丁酸钠治疗丙酮酸脱氢酶复合物缺陷和乳酸性酸中毒。
Sci Transl Med. 2013 Mar 6;5(175):175ra31. doi: 10.1126/scitranslmed.3004986.
5
The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.丙酮酸脱氢酶复合物缺陷症谱：371 例患者的临床、生化和遗传学特征。
Mol Genet Metab. 2012 Jul;106(3):385-94. doi: 10.1016/j.ymgme.2012.03.017.
6
The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.丙酮酸脱氢酶复合物缺陷症的谱：371 例患者的临床、生化和遗传特征。
Mol Genet Metab. 2012 Jan;105(1):34-43. doi: 10.1016/j.ymgme.2011.09.032. Epub 2011 Oct 7.
7
Defective glycine cleavage system in nonketotic hyperglycinemia. Occurrence of a less active glycine decarboxylase and an abnormal aminomethyl carrier protein.非酮症高甘氨酸血症中甘氨酸裂解系统缺陷。存在活性较低的甘氨酸脱羧酶和异常的氨基甲基载体蛋白。
J Clin Invest. 1981 Aug;68(2):525-34. doi: 10.1172/jci110284.
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Food tolerance and food aversion. A joint report of the Royal College of Physicians and the British Nutrition Foundation.食物耐受性与食物厌恶。皇家内科医师学院和英国营养基金会的联合报告。
J R Coll Physicians Lond. 1984 Apr;18(2):83-123.
9
Organic acids in urine of patients with congenital lactic acidoses: an aid to differential diagnosis.先天性乳酸性酸中毒患者尿液中的有机酸：对鉴别诊断的辅助作用。
J Inherit Metab Dis. 1984;7 Suppl 1:79-89. doi: 10.1007/BF03047380.
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Lactic acidaemia.乳酸血症
J Inherit Metab Dis. 1984;7 Suppl 1:69-73. doi: 10.1007/BF03047378.